{"entity": "researcher", "timestamp": "2026-06-10T00:43:57.548Z", "family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "affiliations": ["SCALLOP consortium.", "Uppsala Clinical Research Center, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b"}}, "publications": [{"entity": "publication", "iuid": "3b2a02d67f144ff88bea2f6a5a15421b", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3b2a02d67f144ff88bea2f6a5a15421b.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3b2a02d67f144ff88bea2f6a5a15421b"}}, "title": "Proteomic signatures for fibrosis in MASLD: a biopsy-proven dual-cohort study.", "authors": [{"family": "Blomdahl", "given": "Julia", "initials": "J", "orcid": "0000-0002-6364-8758", "researcher": {"href": "https://publications.scilifelab.se/researcher/73da360e98674266bec90264c3063c69.json"}}, {"family": "\u00c5berg", "given": "Mikael", "initials": "M", "orcid": "0000-0002-7858-8233", "researcher": {"href": "https://publications.scilifelab.se/researcher/90fa86e9aeaa43ea9547e48b4f3f24e3.json"}}, {"family": "Frid\u00e9n", "given": "Michael", "initials": "M", "orcid": "0000-0002-6545-4439", "researcher": {"href": "https://publications.scilifelab.se/researcher/51e5a97ff89243cdb1bacc10c258638d.json"}}, {"family": "Ahlstr\u00f6m", "given": "H\u00e5kan", "initials": "H", "orcid": "0000-0002-8701-969X", "researcher": {"href": "https://publications.scilifelab.se/researcher/53e4a209929642ceaadf3e0aed6b8c69.json"}}, {"family": "Hockings", "given": "Paul", "initials": "P", "orcid": "0000-0002-7154-9047", "researcher": {"href": "https://publications.scilifelab.se/researcher/9361c9d64c2441d1b2466093a328a1dc.json"}}, {"family": "Hulthe", "given": "Johannes", "initials": "J"}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Gabrysch", "given": "Katja", "initials": "K", "orcid": "0009-0003-4234-8814", "researcher": {"href": "https://publications.scilifelab.se/researcher/837ace5843754a7092e87a38c040950c.json"}}, {"family": "Nasr", "given": "Patrik", "initials": "P", "orcid": "0000-0002-2928-4188", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c50e5ee47e24bb1aea2118a99fa870d.json"}}, {"family": "Ris\u00e9rus", "given": "Ulf", "initials": "U", "orcid": "0000-0002-8620-4586", "researcher": {"href": "https://publications.scilifelab.se/researcher/cca577a7bfc942ccbf5284e4b82995f4.json"}}, {"family": "Kechagias", "given": "Stergios", "initials": "S", "orcid": "0000-0001-7614-739X", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c68083028c74ec19620787550e769b5.json"}}, {"family": "Rorsman", "given": "Fredrik", "initials": "F", "orcid": "0000-0003-4023-9617", "researcher": {"href": "https://publications.scilifelab.se/researcher/5fa2976e78ac4486a4edaef33f144d7d.json"}}, {"family": "Ekstedt", "given": "Mattias", "initials": "M", "orcid": "0000-0002-5590-8601", "researcher": {"href": "https://publications.scilifelab.se/researcher/423ba88447d045acb91cf6578a848299.json"}}, {"family": "Vessby", "given": "Johan", "initials": "J", "orcid": "0000-0003-1832-6386", "researcher": {"href": "https://publications.scilifelab.se/researcher/aa93020464454653b142d9951e23a0bb.json"}}], "type": "journal article", "published": "2025-06-00", "journal": {"title": "Scand. J. Gastroenterol.", "issn": "1502-7708", "volume": "60", "issue": "6", "pages": "597-605", "issn-l": "0036-5521"}, "abstract": "Predicting disease progression in metabolic dysfunction-associated steatotic liver disease (MASLD) is challenging, and current non-invasive tests (NITs) lack the precision to replace liver biopsy. This study aimed to identify plasma biomarkers for different stages of fibrosis using affinity-based proteomics in two biopsy-proven cohorts. The primary objective was to identify biomarkers capable of distinguishing between low-to-no fibrosis (F0-1) and significant fibrosis (F2-4) in MASLD.\n\nParticipants in the discovery cohort were recruited from Uppsala University Hospital and Swedish CArdioPulmonary bioImage Study (SCAPIS), while the validation cohort was included from Link\u00f6ping University Hospital. All participants diagnosed with MASLD underwent liver biopsy and were categorized by fibrosis stage (F0-1 or F2-4). A total of 276 plasma proteins were analyzed using Olink\u00ae panels, with biomarkers identified through ordinal logistic regression, random forest (RF) analysis and the Boruta algorithm.\n\nThe discovery cohort included 60 participants, with 60% having fibrosis stage F0-1 and 40% having F2-4. The validation cohort had 59 participants, of whom 35 had fibrosis stage F0-1 (59.3%) and 24 had stage F2-4 (40.7%). Five biomarkers were significantly associated with fibrosis stage in the discovery cohort, with four confirmed in the validation cohort. A model combining angiotensin converting enzyme-2 (ACE2), hepatocyte growth factor (HGF) and insulin-like growth factor-binding protein-7 (IGFBP-7) demonstrated strong predictive performance for significant fibrosis (c-statistics 0.82-0.83), outperforming fibrosis-4 (FIB-4) (c-statistics 0.61-0.72).\n\nA biomarker model including ACE2, HGF and IGFBP7 shows promise in distinguishing between low-stage and significant fibrosis.", "doi": "10.1080/00365521.2025.2490996", "pmid": "40237197", "labels": {"Affinity Proteomics Uppsala": "Collaborative"}, "xrefs": [], "notes": [], "created": "2025-11-25T19:16:23.507Z", "modified": "2025-11-25T19:19:33.192Z"}, {"entity": "publication", "iuid": "102255837dfd43148aaedb132eaadffa", "links": {"self": {"href": "https://publications.scilifelab.se/publication/102255837dfd43148aaedb132eaadffa.json"}, "display": {"href": "https://publications.scilifelab.se/publication/102255837dfd43148aaedb132eaadffa"}}, "title": "Genome-wide association study of direct oral anticoagulants and their relation to bleeding.", "authors": [{"family": "Attelind", "given": "Sofia", "initials": "S", "orcid": "0000-0002-7631-7376", "researcher": {"href": "https://publications.scilifelab.se/researcher/1544b43ea7d14369a4fb6de3174a1d00.json"}}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Wadelius", "given": "Mia", "initials": "M", "orcid": "0000-0002-6368-2622", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec07b9869a1f4b77b734c5dc567dc630.json"}}, {"family": "Hallberg", "given": "P\u00e4r", "initials": "P", "orcid": "0000-0003-3465-3280", "researcher": {"href": "https://publications.scilifelab.se/researcher/968cb3fe072d4ed09739e8be6668d168.json"}}], "type": "journal article", "published": "2025-05-00", "journal": {"title": "Eur J Clin Pharmacol", "issn": "1432-1041", "volume": "81", "issue": "5", "pages": "771-783", "issn-l": null}, "abstract": "Direct oral anticoagulants (DOACs) are used to prevent and treat thromboembolic events in adults. We aimed to investigate whether pharmacogenomic variation contributes to the risk of bleeding during DOAC treatment.\n\nCases were recruited from reports of bleeding sent to the Swedish Medical Products Agency (n = 129, 60% men, 93% Swedish, 89% on factor Xa inhibitors) and compared with population controls (n = 4891) and a subset matched for exposure to DOACs (n = 353). We performed a genome-wide association study, with analyses of candidate single nucleotide polymorphisms (SNPs) and candidate gene set analyses.\n\nForty-four cases had major, 37 minor, and 48 clinically relevant non-major (CRNM) bleeding. When cases were compared with matched controls, BAIAP2L2 rs142001534 was significantly associated with any bleeding and major/CRNM bleeding (P = 4.66 \u00d7 10-8 and P = 3.28 \u00d7 10-8, respectively). The candidate SNP CYP3A5 rs776746 was significantly associated with major and major/CRNM bleeding (P = 0.00020 and P = 0.00025, respectively), and ABCG2 rs2231142 was nominally associated with any bleeding (P = 0.01499). Rare coding variants in the candidate gene VWF were significantly associated with any bleeding (P = 0.00296).\n\nBAIAP2L2, CYP3A5, ABCG2, and VWF may be associated with bleeding in DOAC-treated patients. The risk estimates of the candidate variants in CYP3A5 and ABCG2 were in the same direction as in previous studies. The Von Willebrand Factor gene (VWF) is linked to hereditary bleeding disorders, while there is no previous evidence of bleeding associated with BAIAP2L2.", "doi": "10.1007/s00228-025-03821-x", "pmid": "40116934", "labels": {"NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12003525"}, {"db": "pii", "key": "10.1007/s00228-025-03821-x"}], "notes": [], "created": "2025-09-08T11:34:07.950Z", "modified": "2025-09-08T11:34:08.131Z"}, {"entity": "publication", "iuid": "b736476c34b9439da7adaec3604dbd0c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b736476c34b9439da7adaec3604dbd0c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b736476c34b9439da7adaec3604dbd0c"}}, "title": "Vascular endothelial growth factor-D plasma levels and VEGFD genetic variants are independently associated with outcomes in patients with cardiovascular disease.", "authors": [{"family": "Davidsson", "given": "Pia", "initials": "P", "orcid": "0000-0002-4775-5828", "researcher": {"href": "https://publications.scilifelab.se/researcher/23f2792fe59f463dba3e347ff1efb2bc.json"}}, {"family": "Eketj\u00e4ll", "given": "Susanna", "initials": "S"}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Walentinsson", "given": "Anna", "initials": "A"}, {"family": "Becker", "given": "Richard C", "initials": "RC"}, {"family": "Cavallin", "given": "Anders", "initials": "A"}, {"family": "Bogstedt", "given": "Anna", "initials": "A"}, {"family": "Coll\u00e9n", "given": "Anna", "initials": "A"}, {"family": "Held", "given": "Claes", "initials": "C", "orcid": "0000-0001-9402-7404", "researcher": {"href": "https://publications.scilifelab.se/researcher/88c69f319fce4852aab37e02a75ed525.json"}}, {"family": "James", "given": "Stefan", "initials": "S"}, {"family": "Siegbahn", "given": "Agneta", "initials": "A"}, {"family": "Stewart", "given": "Ralph", "initials": "R", "orcid": "0000-0002-6167-1225", "researcher": {"href": "https://publications.scilifelab.se/researcher/493d2ac878264e0d98736945d8fdbb4d.json"}}, {"family": "Storey", "given": "Robert F", "initials": "RF"}, {"family": "White", "given": "Harvey", "initials": "H"}, {"family": "Wallentin", "given": "Lars", "initials": "L", "orcid": "0000-0003-0378-6531", "researcher": {"href": "https://publications.scilifelab.se/researcher/388a76db2e4d423882d1cf2bf6b7d985.json"}}], "type": "journal article", "published": "2023-07-04", "journal": {"title": "Cardiovasc. Res.", "issn": "1755-3245", "volume": "119", "issue": "7", "pages": "1596-1605", "issn-l": "0008-6363"}, "abstract": "The vascular endothelial growth factor (VEGF) family is involved in pathophysiological mechanisms underlying cardiovascular (CV) diseases. The aim of this study was to investigate the associations between circulating VEGF ligands and/or soluble receptors and CV outcome in patients with acute coronary syndrome (ACS) and chronic coronary syndrome (CCS).\n\nLevels of VEGF biomarkers, including bFGF, Flt-1, KDR (VEGFR2), PlGF, Tie-2, VEGF-A, VEGF-C, and VEGF-D, were measured in the PLATO ACS cohort (n = 2091, discovery cohort). Subsequently, VEGF-D was also measured in the STABILITY CCS cohort (n = 4015, confirmation cohort) to verify associations with CV outcomes. Associations between plasma VEGF-D and outcomes were analysed by multiple Cox regression models with hazard ratios (HR [95% CI]) comparing the upper vs. the lower quartile of VEGF-D. Genome-wide association study (GWAS) of VEGF-D in PLATO identified SNPs that were used as genetic instruments in Mendelian randomization (MR) meta-analyses vs. clinical endpoints. GWAS and MR were performed in patients with ACS from PLATO (n = 10 013) and FRISC-II (n = 2952), and with CCS from the STABILITY trial (n = 10 786). VEGF-D, KDR, Flt-1, and PlGF showed significant association with CV outcomes. VEGF-D was most strongly associated with CV death (P = 3.73e-05, HR 1.892 [1.419, 2.522]). Genome-wide significant associations with VEGF-D levels were identified at the VEGFD locus on chromosome Xp22. MR analyses of the combined top ranked SNPs (GWAS P-values; rs192812042, P = 5.82e-20; rs234500, P = 1.97e-14) demonstrated a significant effect on CV mortality [P = 0.0257, HR 1.81 (1.07, 3.04) per increase of one unit in log VEGF-D].\n\nThis is the first large-scale cohort study to demonstrate that both VEGF-D plasma levels and VEGFD genetic variants are independently associated with CV outcomes in patients with ACS and CCS. Measurements of VEGF-D levels and/or VEGFD genetic variants may provide incremental prognostic information in patients with ACS and CCS.", "doi": "10.1093/cvr/cvad039", "pmid": "36869765", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pii", "key": "7069262"}], "notes": [], "created": "2023-04-06T13:50:07.167Z", "modified": "2023-11-29T19:15:31.361Z"}, {"entity": "publication", "iuid": "2f52edf26b6d4e70b518038783cd933a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2f52edf26b6d4e70b518038783cd933a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2f52edf26b6d4e70b518038783cd933a"}}, "title": "Genome-wide association study of liver enzyme elevation in an extended cohort of rheumatoid arthritis patients starting low-dose methotrexate.", "authors": [{"family": "Cavalli", "given": "Marco", "initials": "M", "orcid": "0000-0003-1143-1431", "researcher": {"href": "https://publications.scilifelab.se/researcher/e35211c06385459baee12101121d2a15.json"}}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Sundbaum", "given": "Johanna Karlsson", "initials": "JK", "orcid": "0000-0001-5313-7981", "researcher": {"href": "https://publications.scilifelab.se/researcher/aae0af5ecb664750a7fe9f482181e571.json"}}, {"family": "Wallenberg", "given": "Matilda", "initials": "M"}, {"family": "Kohnke", "given": "Hugo", "initials": "H"}, {"family": "Baecklund", "given": "Eva", "initials": "E"}, {"family": "Hallberg", "given": "P\u00e4r", "initials": "P", "orcid": "0000-0003-3465-3280", "researcher": {"href": "https://publications.scilifelab.se/researcher/968cb3fe072d4ed09739e8be6668d168.json"}}, {"family": "Wadelius", "given": "Mia", "initials": "M", "orcid": "0000-0002-6368-2622", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec07b9869a1f4b77b734c5dc567dc630.json"}}], "type": "journal article", "published": "2022-10-00", "journal": {"title": "Pharmacogenomics", "issn": "1744-8042", "volume": "23", "issue": "15", "pages": "813-820", "issn-l": "1462-2416"}, "abstract": "Aim: A follow-up genome-wide association study (GWAS) in an extended cohort of rheumatoid arthritis (RA) patients starting low-dose methotrexate (MTX) treatment was performed to identify further genetic variants associated with alanine aminotransferase (ALT) elevation. Patients & methods: A GWAS was performed on 346 RA patients. Two outcomes within the first 6 months of MTX treatment were assessed: ALT >1.5-times the upper level of normal (ULN) and maximum level of ALT. Results: SPATA9 (rs72783407) was significantly associated with maximum level of ALT (p = 2.58 \u00d7 10-8) and PLCG2 (rs60427389) was tentatively associated with ALT >1.5 \u00d7 ULN. Conclusion: Associations with SNPs in genes related to male fertility (SPATA9) and inflammatory processes (PLCG2) were identified.", "doi": "10.2217/pgs-2022-0074", "pmid": "36070248", "labels": {"National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2022-09-19T11:57:03.359Z", "modified": "2024-01-16T13:48:34.919Z"}, {"entity": "publication", "iuid": "0f40db40a4a744a193d075e875abdbf1", "links": {"self": {"href": "https://publications.scilifelab.se/publication/0f40db40a4a744a193d075e875abdbf1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/0f40db40a4a744a193d075e875abdbf1"}}, "title": "Genetic Landscape of the ACE2 Coronavirus Receptor.", "authors": [{"family": "Yang", "given": "Zhijian", "initials": "Z", "orcid": "0000-0003-4803-8633", "researcher": {"href": "https://publications.scilifelab.se/researcher/104e44a8c1e949d18d371fad8b2c9fa9.json"}}, {"family": "Macdonald-Dunlop", "given": "Erin", "initials": "E"}, {"family": "Chen", "given": "Jiantao", "initials": "J", "orcid": "0000-0002-7214-2257", "researcher": {"href": "https://publications.scilifelab.se/researcher/3e8d1f3a3d2f499cb948355fa256d5b9.json"}}, {"family": "Zhai", "given": "Ranran", "initials": "R", "orcid": "0000-0002-5834-9120", "researcher": {"href": "https://publications.scilifelab.se/researcher/43424d9c39ae413096249b0abecc08ee.json"}}, {"family": "Li", "given": "Ting", "initials": "T"}, {"family": "Richmond", "given": "Anne", "initials": "A"}, {"family": "Klari\u0107", "given": "Lucija", "initials": "L", "orcid": "0000-0003-3105-8929", "researcher": {"href": "https://publications.scilifelab.se/researcher/4e9259ccc4aa49e8bf6ea82b71d9be0f.json"}}, {"family": "Pirastu", "given": "Nicola", "initials": "N", "orcid": "0000-0002-5363-3886", "researcher": {"href": "https://publications.scilifelab.se/researcher/badf4678d37546ce993bccb3880d4f12.json"}}, {"family": "Ning", "given": "Zheng", "initials": "Z", "orcid": "0000-0002-0451-6536", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa6cf2d38b5e428a9ce6120f4e6cb46c.json"}}, {"family": "Zheng", "given": "Chenqing", "initials": "C"}, {"family": "Wang", "given": "Yipeng", "initials": "Y"}, {"family": "Huang", "given": "Tingting", "initials": "T", "orcid": "0000-0003-2314-4448", "researcher": {"href": "https://publications.scilifelab.se/researcher/c764a0dc5d6f4358a46638a7098de3a3.json"}}, {"family": "He", "given": "Yazhou", "initials": "Y", "orcid": "0000-0003-2358-0143", "researcher": {"href": "https://publications.scilifelab.se/researcher/4699263c60454108a44731efc3800cc6.json"}}, {"family": "Guo", "given": "Huiming", "initials": "H"}, {"family": "Ying", "given": "Kejun", "initials": "K", "orcid": "0000-0002-1791-6176", "researcher": {"href": "https://publications.scilifelab.se/researcher/6485f7e370b44c5db723352f811ceae5.json"}}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Prins", "given": "Bram", "initials": "B"}, {"family": "Ramisch", "given": "Anna", "initials": "A", "orcid": "0000-0002-0641-4330", "researcher": {"href": "https://publications.scilifelab.se/researcher/65cf286b1a1f41a7be0fdf02c92dcdbc.json"}}, {"family": "Dermitzakis", "given": "Emmanouil T", "initials": "ET"}, {"family": "Png", "given": "Grace", "initials": "G", "orcid": "0000-0003-3962-7436", "researcher": {"href": "https://publications.scilifelab.se/researcher/a065c580d09948b398573339800385b1.json"}}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Haessler", "given": "Jeffrey", "initials": "J"}, {"family": "Hu", "given": "Xiaowei", "initials": "X"}, {"family": "Zanetti", "given": "Daniela", "initials": "D", "orcid": "0000-0002-1225-1021", "researcher": {"href": "https://publications.scilifelab.se/researcher/88b1725b56034ad18aa0e4a6cc73126e.json"}}, {"family": "Boutin", "given": "Thibaud", "initials": "T"}, {"family": "Hwang", "given": "Shih-Jen", "initials": "SJ", "orcid": "0000-0002-2129-5704", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb2b949d7dd0449b841f40d6ae246fcb.json"}}, {"family": "Wheeler", "given": "Eleanor", "initials": "E"}, {"family": "Pietzner", "given": "Maik", "initials": "M"}, {"family": "Raffield", "given": "Laura M", "initials": "LM", "orcid": "0000-0002-7892-193X", "researcher": {"href": "https://publications.scilifelab.se/researcher/202a2d2ab8a54b93bcd728d74a7724ce.json"}}, {"family": "Kalnapenkis", "given": "Anette", "initials": "A"}, {"family": "Peters", "given": "James E", "initials": "JE"}, {"family": "Vi\u00f1uela", "given": "Ana", "initials": "A", "orcid": "0000-0003-3771-8537", "researcher": {"href": "https://publications.scilifelab.se/researcher/e6551fc3132f4fa597378c565247a315.json"}}, {"family": "Gilly", "given": "Arthur", "initials": "A"}, {"family": "Elmst\u00e5hl", "given": "S\u00f6lve", "initials": "S"}, {"family": "Dedoussis", "given": "George", "initials": "G"}, {"family": "Petrie", "given": "John R", "initials": "JR"}, {"family": "Pola\u0161ek", "given": "Ozren", "initials": "O"}, {"family": "Folkersen", "given": "Lasse", "initials": "L", "orcid": "0000-0003-0708-9530", "researcher": {"href": "https://publications.scilifelab.se/researcher/7202a83ff6484d5c9d77f448f93c6520.json"}}, {"family": "Chen", "given": "Yan", "initials": "Y", "orcid": "0000-0001-9673-9712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ad31a2d328b47d59d84972db72bd37d.json"}}, {"family": "Yao", "given": "Chen", "initials": "C"}, {"family": "V\u00f5sa", "given": "Urmo", "initials": "U"}, {"family": "Pairo-Castineira", "given": "Erola", "initials": "E"}, {"family": "Clohisey", "given": "Sara", "initials": "S"}, {"family": "Bretherick", "given": "Andrew D", "initials": "AD"}, {"family": "Rawlik", "given": "Konrad", "initials": "K"}, {"family": "GenOMICC Consortium\u2020", "given": "", "initials": ""}, {"family": "IMI-DIRECT Consortium\u2020", "given": "", "initials": ""}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T"}, {"family": "Enroth", "given": "Stefan", "initials": "S"}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Langenberg", "given": "Claudia", "initials": "C", "orcid": "0000-0002-5017-7344", "researcher": {"href": "https://publications.scilifelab.se/researcher/ca19370bb4d6437aa9df3905db9d3dd2.json"}}, {"family": "Levy", "given": "Daniel", "initials": "D", "orcid": "0000-0003-1843-8724", "researcher": {"href": "https://publications.scilifelab.se/researcher/86bfd3e65ead428c93dc1a461004adab.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Assimes", "given": "Themistocles L", "initials": "TL", "orcid": "0000-0003-2349-0009", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e155ca3dd01486580be888d1ded405c.json"}}, {"family": "Kooperberg", "given": "Charles", "initials": "C", "orcid": "0000-0002-7986-8560", "researcher": {"href": "https://publications.scilifelab.se/researcher/ede9a05559a041fa92259322da5e7151.json"}}, {"family": "Manichaikul", "given": "Ani W", "initials": "AW"}, {"family": "Siegbahn", "given": "Agneta", "initials": "A"}, {"family": "Wallentin", "given": "Lars", "initials": "L"}, {"family": "Lind", "given": "Lars", "initials": "L", "orcid": "0000-0003-2335-8542", "researcher": {"href": "https://publications.scilifelab.se/researcher/4c517dacca7c4ec58a3e03b59ffb4044.json"}}, {"family": "Zeggini", "given": "Eleftheria", "initials": "E"}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications.scilifelab.se/researcher/aba5822711b246b397fffacb7ae403b3.json"}}, {"family": "Butterworth", "given": "Adam S", "initials": "AS", "orcid": "0000-0002-6915-9015", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b8c140c80d942c4b1b684876e4d6180.json"}}, {"family": "Micha\u00eblsson", "given": "Karl", "initials": "K", "orcid": "0000-0003-2815-1217", "researcher": {"href": "https://publications.scilifelab.se/researcher/eff63868e95240f695d47e871e31947f.json"}}, {"family": "Pawitan", "given": "Yudi", "initials": "Y"}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications.scilifelab.se/researcher/46050ddec8f64054b3bab46c5016aebf.json"}}, {"family": "Baillie", "given": "J Kenneth", "initials": "JK"}, {"family": "M\u00e4larstig", "given": "Anders", "initials": "A"}, {"family": "Reiner", "given": "Alexander P", "initials": "AP", "orcid": "0000-0002-1427-4470", "researcher": {"href": "https://publications.scilifelab.se/researcher/931fcf4444904ec398a450a9ec4f4389.json"}}, {"family": "Wilson", "given": "James F", "initials": "JF"}, {"family": "Shen", "given": "Xia", "initials": "X", "orcid": "0000-0003-4390-1979", "researcher": {"href": "https://publications.scilifelab.se/researcher/b40d1f7f07ed482b9c95f56c61f0a836.json"}}], "type": "journal article", "published": "2022-05-03", "journal": {"title": "Circulation", "issn": "1524-4539", "volume": "145", "issue": "18", "pages": "1398-1411", "issn-l": "0009-7322"}, "abstract": "SARS-CoV-2, the causal agent of COVID-19, enters human cells using the ACE2 (angiotensin-converting enzyme 2) protein as a receptor. ACE2 is thus key to the infection and treatment of the coronavirus. ACE2 is highly expressed in the heart and respiratory and gastrointestinal tracts, playing important regulatory roles in the cardiovascular and other biological systems. However, the genetic basis of the ACE2 protein levels is not well understood.\n\nWe have conducted the largest genome-wide association meta-analysis of plasma ACE2 levels in >28 000 individuals of the SCALLOP Consortium (Systematic and Combined Analysis of Olink Proteins). We summarize the cross-sectional epidemiological correlates of circulating ACE2. Using the summary statistics-based high-definition likelihood method, we estimate relevant genetic correlations with cardiometabolic phenotypes, COVID-19, and other human complex traits and diseases. We perform causal inference of soluble ACE2 on vascular disease outcomes and COVID-19 severity using mendelian randomization. We also perform in silico functional analysis by integrating with other types of omics data.\n\nWe identified 10 loci, including 8 novel, capturing 30% of the heritability of the protein. We detected that plasma ACE2 was genetically correlated with vascular diseases, severe COVID-19, and a wide range of human complex diseases and medications. An X-chromosome cis-protein quantitative trait loci-based mendelian randomization analysis suggested a causal effect of elevated ACE2 levels on COVID-19 severity (odds ratio, 1.63 [95% CI, 1.10-2.42]; P=0.01), hospitalization (odds ratio, 1.52 [95% CI, 1.05-2.21]; P=0.03), and infection (odds ratio, 1.60 [95% CI, 1.08-2.37]; P=0.02). Tissue- and cell type-specific transcriptomic and epigenomic analysis revealed that the ACE2 regulatory variants were enriched for DNA methylation sites in blood immune cells.\n\nHuman plasma ACE2 shares a genetic basis with cardiovascular disease, COVID-19, and other related diseases. The genetic architecture of the ACE2 protein is mapped, providing a useful resource for further biological and clinical studies on this coronavirus receptor.", "doi": "10.1161/CIRCULATIONAHA.121.057888", "pmid": "35387486", "labels": {"National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Affinity Proteomics Stockholm": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9047645"}], "notes": [], "created": "2022-05-06T10:18:12.729Z", "modified": "2022-12-05T01:33:32.862Z"}, {"entity": "publication", "iuid": "dab2208caeea405eac67dbba14f79339", "links": {"self": {"href": "https://publications.scilifelab.se/publication/dab2208caeea405eac67dbba14f79339.json"}, "display": {"href": "https://publications.scilifelab.se/publication/dab2208caeea405eac67dbba14f79339"}}, "title": "Risk of Revision After Arthroplasty Associated with Specific Gene Loci: A Genomewide Association Study of Single-Nucleotide Polymorphisms in 1,130 Twins Treated with Arthroplasty.", "authors": [{"family": "Br\u00fcggemann", "given": "Anders", "initials": "A", "orcid": "0000-0002-3600-253", "researcher": {"href": "https://publications.scilifelab.se/researcher/cbd0a479f8464bc6b309e1ecd9b7a9ea.json"}}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Micha\u00eblsson", "given": "Karl", "initials": "K", "orcid": "0000-0003-2815-1217", "researcher": {"href": "https://publications.scilifelab.se/researcher/eff63868e95240f695d47e871e31947f.json"}}, {"family": "Hailer", "given": "Nils P", "initials": "NP", "orcid": "0000-0002-3233-2638", "researcher": {"href": "https://publications.scilifelab.se/researcher/4c8bb8c013184ef7b482ffe6f8f1380b.json"}}], "type": "journal article", "published": "2022-01-04", "journal": {"title": "J Bone Joint Surg Am", "issn": "1535-1386", "issn-l": null, "volume": "104", "issue": "7", "pages": "610-620"}, "abstract": "The risk of revision surgery following total joint arthroplasty (TJA) may be influenced by genetic factors. Therefore, we sought to identify genetic variants associated with the risk of revision surgery in a genomewide association study.\r\n\r\nWe investigated a cohort of 1,130 twins from the Swedish Twin Registry treated with TJA. During a mean of 9.4 years of follow-up, 75 individuals underwent revision surgery for aseptic loosening (the primary outcome) and 94, for any reason (the secondary outcome). Genetic information was collected using the Illumina OmniExpress and PsychArray panels, and the Haplotype Reference Consortium served as the reference for gene imputation. Adjusted Cox regression models were fitted to calculate hazard ratios (HRs) with 95% confidence intervals (CIs).\r\n\r\nNine single-nucleotide polymorphisms (SNPs) reached genomewide significance for aseptic loosening. The first SNP, rs77149046, located in the endosome-lysosome associated apoptosis and autophagy regulator family member 2 (ELAPOR2) gene, conferred an HR of 5.40 (CI, 3.23-9.02; p = 1.32\u00d710-10), followed by 4 SNPs within the region coding for sodium-dependent taurine and beta-alanine transporter (SLC6A6), with HRs ranging from 3.35 to 3.43. The sixth SNP, rs7853989 (HR, 3.46; CI, 2.33-5.13; p = 6.91\u00d710-10), was located in a region coding for the ABO blood group system. This SNP has been described as predictive for blood type B. Seven significant SNPs were found for the risk of revision for any reason, with the first 4 again being located in the SLC6A6 region. The leading SNP, rs62233562, conferred an HR of 3.11 (CI, 2.19-4.40; p = 1.74\u00d710-10) for revision surgery. Similar HRs were found for SNPs 3:14506680 (p = 1.78\u00d710-10), rs2289129 (p = 1.78\u00d710-10), and rs17309567 (p = 3.16\u00d710-10). The fifth SNP, rs11120968, was located in the calmodulin-binding transcription activator 1 (CAMTA1) gene (HR, 2.34; CI, 1.74-3.13, p = 1.45\u00d710-8).\r\n\r\nWe identified 12 unique SNPs associated with an increased risk of revision surgery. Among these, 2 were in ELAPOR2, which is closely linked to bone formation. Another SNP is located in a gene region encoding for the ABO system, which merits further studies of causal relationships.\r\n\r\nPrognostic Level III. See Instructions for Authors for a complete description of levels of evidence.", "doi": "10.2106/JBJS.21.00750", "pmid": "34982741", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "00004623-990000000-00431"}], "notes": [], "created": "2022-01-20T12:59:36.162Z", "modified": "2024-01-16T13:48:37.826Z"}, {"entity": "publication", "iuid": "6dc0d1b807c54d67851f7551d0a1f0af", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6dc0d1b807c54d67851f7551d0a1f0af.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6dc0d1b807c54d67851f7551d0a1f0af"}}, "title": "Genome-wide association study of liver enzyme elevation in rheumatoid arthritis patients starting methotrexate.", "authors": [{"family": "Sundbaum", "given": "Johanna Karlsson", "initials": "JK", "orcid": "0000-0001-5313-7981", "researcher": {"href": "https://publications.scilifelab.se/researcher/aae0af5ecb664750a7fe9f482181e571.json"}}, {"family": "Baecklund", "given": "Eva", "initials": "E"}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Kohnke", "given": "Hugo", "initials": "H"}, {"family": "Wallenberg", "given": "Matilda", "initials": "M"}, {"family": "Cavalli", "given": "Marco", "initials": "M", "orcid": "0000-0003-1143-1431", "researcher": {"href": "https://publications.scilifelab.se/researcher/e35211c06385459baee12101121d2a15.json"}}, {"family": "Wadelius", "given": "Claes", "initials": "C", "orcid": "0000-0002-2033-7829", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ec5ca1122024da4893b61e329a5ece5.json"}}, {"family": "Wadelius", "given": "Mia", "initials": "M", "orcid": "0000-0002-6368-2622", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec07b9869a1f4b77b734c5dc567dc630.json"}}, {"family": "Hallberg", "given": "P\u00e4r", "initials": "P", "orcid": "0000-0003-3465-3280", "researcher": {"href": "https://publications.scilifelab.se/researcher/968cb3fe072d4ed09739e8be6668d168.json"}}], "type": "journal article", "published": "2021-10-00", "journal": {"title": "Pharmacogenomics", "issn": "1744-8042", "issn-l": "1462-2416", "volume": "22", "issue": "15", "pages": "973-982"}, "abstract": "Aim: To identify novel genetic variants predisposing to elevation of Alanine aminotransferase (ALT) in rheumatoid arthritis (RA) patients after initiation of methotrexate (MTX) treatment. Patients & methods: We performed genome-wide association studies in 198 RA patients starting MTX. Outcomes were maximum level of ALT and ALT >1.5-times the upper level of normal within the first 6 months of treatment. Results: RAVER2 (rs72675408) was significantly associated with maximum level of ALT (p = 4.36 \u00d7 10-8). This variant is in linkage disequilibrium with rs72675451, which is associated with differential expression of JAK1 and RAVER2. Conclusion: We found an association between ALT elevation and genetic variants that may regulate the expression of JAK1 and RAVER2. JAK1 encodes a janus kinase involved in the pathogenesis of RA.", "doi": "10.2217/pgs-2021-0064", "pmid": "34521259", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2021-09-17T14:54:04.269Z", "modified": "2024-01-16T13:48:38.408Z"}, {"entity": "publication", "iuid": "6cab2cbebcc34f5e8cc965eb5955fdca", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6cab2cbebcc34f5e8cc965eb5955fdca.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6cab2cbebcc34f5e8cc965eb5955fdca"}}, "title": "Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality.", "authors": [{"family": "Schunk", "given": "Stefan J", "initials": "SJ"}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": "0000-0003-0663-7275", "researcher": {"href": "https://publications.scilifelab.se/researcher/a51175112cfb4721b8c9fbfdc71c4307.json"}}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Pang", "given": "Shichao", "initials": "S", "orcid": "0000-0002-4111-2864", "researcher": {"href": "https://publications.scilifelab.se/researcher/9839ca383ecb432dafae190a3a5b583a.json"}}, {"family": "Zewinger", "given": "Stephen", "initials": "S"}, {"family": "Triem", "given": "Sarah", "initials": "S"}, {"family": "Ege", "given": "Philipp", "initials": "P"}, {"family": "Reichert", "given": "Matthias C", "initials": "MC", "orcid": "0000-0002-8192-0575", "researcher": {"href": "https://publications.scilifelab.se/researcher/a12ee4f4194f4f9c8cfecd585aa92fe9.json"}}, {"family": "Krawczyk", "given": "Marcin", "initials": "M"}, {"family": "Weber", "given": "Susanne N", "initials": "SN"}, {"family": "Jaumann", "given": "Isabella", "initials": "I"}, {"family": "Schmit", "given": "David", "initials": "D"}, {"family": "Sarakpi", "given": "Tamim", "initials": "T"}, {"family": "Wagenpfeil", "given": "Stefan", "initials": "S", "orcid": "0000-0002-4558-4041", "researcher": {"href": "https://publications.scilifelab.se/researcher/9587116dd42d44d9b5a1cc33af1d6623.json"}}, {"family": "Kramann", "given": "Rafael", "initials": "R", "orcid": "0000-0003-4048-6351", "researcher": {"href": "https://publications.scilifelab.se/researcher/d5994a0ef0594c55a01e0886f3288b3b.json"}}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Ballantyne", "given": "Christie M", "initials": "CM"}, {"family": "Grove", "given": "Megan L", "initials": "ML"}, {"family": "Tragante", "given": "Vinicius", "initials": "V", "orcid": "0000-0002-8223-8957", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb83d260bc8546edba9e3e2ed2d2c752.json"}}, {"family": "Pilbrow", "given": "Anna P", "initials": "AP", "orcid": "0000-0003-1949-9449", "researcher": {"href": "https://publications.scilifelab.se/researcher/b86a1225a68e403e806a07b42e96c991.json"}}, {"family": "Richards", "given": "A Mark", "initials": "AM", "orcid": "0000-0002-2023-8177", "researcher": {"href": "https://publications.scilifelab.se/researcher/305e1cdb095145fab591d41542b578dd.json"}}, {"family": "Cameron", "given": "Vicky A", "initials": "VA", "orcid": "0000-0003-3147-683X", "researcher": {"href": "https://publications.scilifelab.se/researcher/72d115e749a34e239c336c16e35fdd64.json"}}, {"family": "Doughty", "given": "Robert N", "initials": "RN"}, {"family": "Dub\u00e9", "given": "Marie-Pierre", "initials": "M"}, {"family": "Tardif", "given": "Jean-Claude", "initials": "J"}, {"family": "Feroz-Zada", "given": "Yassamin", "initials": "Y"}, {"family": "Sun", "given": "Maxine", "initials": "M"}, {"family": "Liu", "given": "Chang", "initials": "C", "orcid": "0000-0002-8918-7224", "researcher": {"href": "https://publications.scilifelab.se/researcher/994fa918eb6142fca1897858b7b56a06.json"}}, {"family": "Ko", "given": "Yi-An", "initials": "Y"}, {"family": "Quyyumi", "given": "Arshed A", "initials": "AA"}, {"family": "Hartiala", "given": "Jaana A", "initials": "JA", "orcid": "0000-0003-4883-9318", "researcher": {"href": "https://publications.scilifelab.se/researcher/f39400df71774cf8ae408eccbe34d981.json"}}, {"family": "Tang", "given": "W H Wilson", "initials": "WHW", "orcid": "0000-0002-8335-735X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5aab6a5657004a79aeda81c22a077268.json"}}, {"family": "Hazen", "given": "Stanley L", "initials": "SL", "orcid": "0000-0001-7124-6639", "researcher": {"href": "https://publications.scilifelab.se/researcher/abce9cd916c94667a73bc348ede57a01.json"}}, {"family": "Allayee", "given": "Hooman", "initials": "H", "orcid": "0000-0002-2384-5239", "researcher": {"href": "https://publications.scilifelab.se/researcher/4f1c610874a248c8beaa2254d319c586.json"}}, {"family": "McDonough", "given": "Caitrin W", "initials": "CW", "orcid": "0000-0001-6393-7288", "researcher": {"href": "https://publications.scilifelab.se/researcher/61630ed695424fe9a15afa6b8d7d7362.json"}}, {"family": "Gong", "given": "Yan", "initials": "Y", "orcid": "0000-0002-8218-1620", "researcher": {"href": "https://publications.scilifelab.se/researcher/a2daf12201f64608b70dac45339da354.json"}}, {"family": "Cooper-DeHoff", "given": "Rhonda M", "initials": "RM"}, {"family": "Johnson", "given": "Julie A", "initials": "JA"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d7b0e2dcdb4361b54016cb1550c5fe.json"}}, {"family": "Teren", "given": "Andrej", "initials": "A"}, {"family": "Burkhardt", "given": "Ralph", "initials": "R", "orcid": "0000-0003-1924-1202", "researcher": {"href": "https://publications.scilifelab.se/researcher/abe3ddd140b3478485f44119d18926b7.json"}}, {"family": "Martinsson", "given": "Andreas", "initials": "A"}, {"family": "Smith", "given": "J Gustav", "initials": "JG"}, {"family": "Wallentin", "given": "Lars", "initials": "L", "orcid": "0000-0003-0378-6531", "researcher": {"href": "https://publications.scilifelab.se/researcher/388a76db2e4d423882d1cf2bf6b7d985.json"}}, {"family": "James", "given": "Stefan K", "initials": "SK"}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "White", "given": "Harvey", "initials": "H", "orcid": "0000-0001-7712-6750", "researcher": {"href": "https://publications.scilifelab.se/researcher/3fe685eeba0d411f8d275e3ecbf4bb3c.json"}}, {"family": "Held", "given": "Claes", "initials": "C", "orcid": "0000-0001-9402-7404", "researcher": {"href": "https://publications.scilifelab.se/researcher/88c69f319fce4852aab37e02a75ed525.json"}}, {"family": "Waterworth", "given": "Dawn", "initials": "D", "orcid": "0000-0002-9226-1317", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e78b8890897424abea48058cd4c77d2.json"}}, {"family": "Trompet", "given": "Stella", "initials": "S"}, {"family": "Jukema", "given": "J Wouter", "initials": "JW", "orcid": "0000-0002-3246-8359", "researcher": {"href": "https://publications.scilifelab.se/researcher/0479b794031d4df7bed96340b3470c19.json"}}, {"family": "Ford", "given": "Ian", "initials": "I", "orcid": "0000-0001-5927-1823", "researcher": {"href": "https://publications.scilifelab.se/researcher/317610dc46d14a2ebea4a1fc4e9cecc7.json"}}, {"family": "Stott", "given": "David J", "initials": "DJ", "orcid": "0000-0002-3110-7746", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7e647358616409f9d8983f342485014.json"}}, {"family": "Sattar", "given": "Naveed", "initials": "N", "orcid": "0000-0002-1604-2593", "researcher": {"href": "https://publications.scilifelab.se/researcher/80fbc7cdcfc444acb066449f80f87181.json"}}, {"family": "Cresci", "given": "Sharon", "initials": "S", "orcid": "0000-0002-5417-1054", "researcher": {"href": "https://publications.scilifelab.se/researcher/e134fd37d561443eb2bd8c23c3aa6df9.json"}}, {"family": "Spertus", "given": "John A", "initials": "JA", "orcid": "0000-0002-2839-2611", "researcher": {"href": "https://publications.scilifelab.se/researcher/58934381001f467fa9c8ed53787956bb.json"}}, {"family": "Campbell", "given": "Hannah", "initials": "H"}, {"family": "Tierling", "given": "Sascha", "initials": "S"}, {"family": "Walter", "given": "J\u00f6rn", "initials": "J", "orcid": "0000-0003-0563-7417", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea3e512691b4aa39c5b7c7fdcdb585d.json"}}, {"family": "Ampofo", "given": "Emmanuel", "initials": "E"}, {"family": "Niemeyer", "given": "Barbara A", "initials": "BA", "orcid": "0000-0002-6963-0575", "researcher": {"href": "https://publications.scilifelab.se/researcher/f5261a56f977404b894cd4a5bad1bbc3.json"}}, {"family": "Lipp", "given": "Peter", "initials": "P", "orcid": "0000-0003-4728-9174", "researcher": {"href": "https://publications.scilifelab.se/researcher/b96abc30cbf54fc1917b2976308c12b3.json"}}, {"family": "Schunkert", "given": "Heribert", "initials": "H"}, {"family": "B\u00f6hm", "given": "Michael", "initials": "M"}, {"family": "Koenig", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-2064-9603", "researcher": {"href": "https://publications.scilifelab.se/researcher/b358f3d797814a07a05a63364ae37d27.json"}}, {"family": "Fliser", "given": "Danilo", "initials": "D"}, {"family": "Laufs", "given": "Ulrich", "initials": "U", "orcid": "0000-0003-2620-9323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3d7b26e6a8964ce2b76be17eddf2c7ac.json"}}, {"family": "Speer", "given": "Thimoteus", "initials": "T", "orcid": "0000-0002-2491-6393", "researcher": {"href": "https://publications.scilifelab.se/researcher/4c3bc32b3f144c6080853bae7094d681.json"}}, {"family": "eQTLGen consortium", "given": "", "initials": ""}, {"family": "BIOS consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2021-05-07", "journal": {"title": "Eur. Heart J.", "issn": "1522-9645", "issn-l": "0195-668X", "volume": "42", "issue": "18", "pages": "1742-1756"}, "abstract": "Inflammation plays an important role in cardiovascular disease (CVD) development. The NOD-like receptor protein-3 (NLRP3) inflammasome contributes to the development of atherosclerosis in animal models. Components of the NLRP3 inflammasome pathway such as interleukin-1\u03b2 can therapeutically be targeted. Associations of genetically determined inflammasome-mediated systemic inflammation with CVD and mortality in humans are unknown.\r\n\r\nWe explored the association of genetic NLRP3 variants with prevalent CVD and cardiovascular mortality in 538 167 subjects on the individual participant level in an explorative gene-centric approach without performing multiple testing. Functional relevance of single-nucleotide polymorphisms on NLRP3 inflammasome activation has been evaluated in monocyte-enriched peripheral blood mononuclear cells (PBMCs). Genetic analyses identified the highly prevalent (minor allele frequency 39.9%) intronic NLRP3 variant rs10754555 to affect NLRP3 gene expression. rs10754555 carriers showed significantly higher C-reactive protein and serum amyloid A plasma levels. Carriers of the G allele showed higher NLRP3 inflammasome activation in isolated human PBMCs. In carriers of the rs10754555 variant, the prevalence of coronary artery disease was significantly higher as compared to non-carriers with a significant interaction between rs10754555 and age. Importantly, rs10754555 carriers had significantly higher risk for cardiovascular mortality during follow-up. Inflammasome inducers (e.g. urate, triglycerides, apolipoprotein C3) modulated the association between rs10754555 and mortality.\r\n\r\nThe NLRP3 intronic variant rs10754555 is associated with increased systemic inflammation, inflammasome activation, prevalent coronary artery disease, and mortality. This study provides evidence for a substantial role of genetically driven systemic inflammation in CVD and highlights the NLRP3 inflammasome as a therapeutic target.", "doi": "10.1093/eurheartj/ehab107", "pmid": "33748830", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "6179517"}, {"db": "pmc", "key": "PMC8244638"}], "notes": [], "created": "2021-08-19T13:42:03.904Z", "modified": "2021-12-07T13:39:27.736Z"}, {"entity": "publication", "iuid": "c1a6d2301da54435a1c59494b1d09e4e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c1a6d2301da54435a1c59494b1d09e4e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c1a6d2301da54435a1c59494b1d09e4e"}}, "title": "Plasma proteins associated with cardiovascular death in patients with chronic coronary heart disease: A retrospective study.", "authors": [{"family": "Wallentin", "given": "Lars", "initials": "L", "orcid": "0000-0003-0378-6531", "researcher": {"href": "https://publications.scilifelab.se/researcher/388a76db2e4d423882d1cf2bf6b7d985.json"}}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Olszowka", "given": "Maciej", "initials": "M", "orcid": "0000-0001-6013-4519", "researcher": {"href": "https://publications.scilifelab.se/researcher/912f23a5cb3d458c84aaaaad4a2b45fd.json"}}, {"family": "Grammer", "given": "Tanja B", "initials": "TB"}, {"family": "Hagstr\u00f6m", "given": "Emil", "initials": "E", "orcid": "0000-0003-3221-0144", "researcher": {"href": "https://publications.scilifelab.se/researcher/9446657edc224584a7bdfd76c8d991cf.json"}}, {"family": "Held", "given": "Claes", "initials": "C", "orcid": "0000-0001-9402-7404", "researcher": {"href": "https://publications.scilifelab.se/researcher/88c69f319fce4852aab37e02a75ed525.json"}}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": "0000-0003-0663-7275", "researcher": {"href": "https://publications.scilifelab.se/researcher/a51175112cfb4721b8c9fbfdc71c4307.json"}}, {"family": "Koenig", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-2064-9603", "researcher": {"href": "https://publications.scilifelab.se/researcher/b358f3d797814a07a05a63364ae37d27.json"}}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W", "orcid": "0000-0001-6083-8946", "researcher": {"href": "https://publications.scilifelab.se/researcher/ae0d0dd988e846c4b8c5869b9d1f2905.json"}}, {"family": "Stewart", "given": "Ralph A H", "initials": "RAH", "orcid": "0000-0002-6167-1225", "researcher": {"href": "https://publications.scilifelab.se/researcher/493d2ac878264e0d98736945d8fdbb4d.json"}}, {"family": "White", "given": "Harvey D", "initials": "HD"}, {"family": "\u00c5berg", "given": "Mikael", "initials": "M", "orcid": "0000-0002-7858-8233", "researcher": {"href": "https://publications.scilifelab.se/researcher/90fa86e9aeaa43ea9547e48b4f3f24e3.json"}}, {"family": "Siegbahn", "given": "Agneta", "initials": "A", "orcid": "0000-0003-3955-5671", "researcher": {"href": "https://publications.scilifelab.se/researcher/b04f7f66e31e4c369c078c4d5d0f2a89.json"}}], "type": "journal article", "published": "2021-01-00", "journal": {"title": "PLoS Med.", "issn": "1549-1676", "issn-l": "1549-1277", "volume": "18", "issue": "1", "pages": "e1003513"}, "abstract": "Circulating biomarkers are associated with the development of coronary heart disease (CHD) and its complications by reflecting pathophysiological pathways and/or organ dysfunction. We explored the associations between 157 cardiovascular (CV) and inflammatory biomarkers and CV death using proximity extension assays (PEA) in patients with chronic CHD.\n\nThe derivation cohort consisted of 605 cases with CV death and 2,788 randomly selected non-cases during 3-5 years follow-up included in the STabilization of Atherosclerotic plaque By Initiation of darapLadIb TherapY (STABILITY) trial between 2008 and 2010. The replication cohort consisted of 245 cases and 1,042 non-cases during 12 years follow-up included in the Ludwigshafen Risk and Cardiovascular Health (LURIC) study between 1997 and 2000. Biomarker levels were measured with conventional immunoassays and/or with the OLINK PEA panels CVD I and Inflammation. Associations with CV death were evaluated by Random Survival Forest (RF) and Cox regression analyses. Both cohorts had the same median age (65 years) and 20% smokers, while there were slight differences in male sex (82% and 76%), hypertension (70% and 78%), and diabetes (39% and 30%) in the respective STABILITY and LURIC cohorts. The analyses identified 18 biomarkers with confirmed independent association with CV death by Boruta analyses and statistical significance (all p < 0.0001) by Cox regression when adjusted for clinical characteristics in both cohorts. Most prognostic information was carried by N-terminal prohormone of brain natriuretic peptide (NTproBNP), hazard ratio (HR for 1 standard deviation [SD] increase of the log scale of the distribution of the biomarker in the replication cohort) 2.079 (95% confidence interval [CI] 1.799-2.402), and high-sensitivity troponin T (cTnT-hs) HR 1.715 (95% CI 1.491-1.973). The other proteins with independent associations were growth differentiation factor 15 (GDF-15) HR 1.728 (95% CI 1.527-1.955), transmembrane immunoglobulin and mucin domain protein (TIM-1) HR 1.555 (95% CI 1.362-1.775), renin HR 1.501 (95% CI 1.305-1.727), osteoprotegerin (OPG) HR 1.488 (95% CI 1.297-1.708), soluble suppression of tumorigenesis 2 protein (sST2) HR 1.478 (95% CI 1.307-1.672), cystatin-C (Cys-C) HR 1.370 (95% CI 1.243-1.510), tumor necrosis factor-related apoptosis-inducing ligand receptor 2 (TRAIL-R2) HR 1.205 (95% CI 1.131-1.285), carbohydrate antigen 125 (CA-125) HR 1.347 (95% CI 1.226-1.479), brain natriuretic peptide (BNP) HR 1.399 (95% CI 1.255-1.561), interleukin 6 (IL-6) HR 1.478 (95% CI 1.316-1.659), hepatocyte growth factor (HGF) HR 1.259 (95% CI 1.134-1.396), spondin-1 HR 1.295 (95% CI 1.156-1.450), fibroblast growth factor 23 (FGF-23) HR 1.349 (95% CI 1.237-1.472), chitinase-3 like protein 1 (CHI3L1) HR 1.284 (95% CI 1.129-1.461), tumor necrosis factor receptor 1 (TNF-R1) HR 1.486 (95% CI 1.307-1.689), and adrenomedullin (AM) HR 1.750 (95% CI 1.490-2.056). The study is limited by the differences in design, size, and length of follow-up of the 2 studies and the lack of results from coronary angiograms and follow-up of nonfatal events.\n\nProfiles of levels of multiple plasma proteins might be useful for the identification of different pathophysiological pathways associated with an increased risk of CV death in patients with chronic CHD.\n\nClinicalTrials.gov NCT00799903.", "doi": "10.1371/journal.pmed.1003513", "pmid": "33439866", "labels": {"Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC7817029"}, {"db": "pii", "key": "PMEDICINE-D-20-04160"}, {"db": "ClinicalTrials.gov", "key": "NCT00799903"}], "notes": [], "created": "2021-12-10T09:23:14.354Z", "modified": "2022-12-02T09:03:46.477Z"}, {"entity": "publication", "iuid": "d52fe9ba559d4dbcb12811ce80a182df", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d52fe9ba559d4dbcb12811ce80a182df.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d52fe9ba559d4dbcb12811ce80a182df"}}, "title": "Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.", "authors": [{"family": "Maroteau", "given": "Cyrielle", "initials": "C", "orcid": "0000-0001-7816-5508", "researcher": {"href": "https://publications.scilifelab.se/researcher/ebfc9425cb394843ac30847955e53ebe.json"}}, {"family": "Siddiqui", "given": "Moneeza Kalhan", "initials": "MK"}, {"family": "Veluchamy", "given": "Abirami", "initials": "A"}, {"family": "Carr", "given": "Fiona", "initials": "F"}, {"family": "White", "given": "Myra", "initials": "M"}, {"family": "Cassidy", "given": "Andrew J", "initials": "AJ"}, {"family": "Baranova", "given": "Ekaterina V", "initials": "EV"}, {"family": "Rasmussen", "given": "Eva R", "initials": "ER"}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Bloch", "given": "Katarzyna M", "initials": "KM"}, {"family": "Brown", "given": "Nancy J", "initials": "NJ"}, {"family": "Bygum", "given": "Anette", "initials": "A"}, {"family": "Hallberg", "given": "Par", "initials": "P", "orcid": "0000-0003-3465-3280", "researcher": {"href": "https://publications.scilifelab.se/researcher/968cb3fe072d4ed09739e8be6668d168.json"}}, {"family": "Karawajczyk", "given": "Malgorzata", "initials": "M"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE"}, {"family": "Yue", "given": "Qun-Ying", "initials": "QY"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "von Buchwald", "given": "Christian", "initials": "C"}, {"family": "Alfirevic", "given": "Ana", "initials": "A"}, {"family": "Maitland-van der Zee", "given": "Anke H", "initials": "AH"}, {"family": "Wadelius", "given": "Mia", "initials": "M", "orcid": "0000-0002-6368-2622", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec07b9869a1f4b77b734c5dc567dc630.json"}}, {"family": "Palmer", "given": "Colin N A", "initials": "CNA"}, {"family": "PREDICTION-ADR", "given": "", "initials": ""}], "type": "journal article", "published": "2020-12-00", "journal": {"title": "Clin. Pharmacol. Ther.", "issn": "1532-6535", "volume": "108", "issue": "6", "pages": "1195-1202", "issn-l": "0009-9236"}, "abstract": "Angioedema occurring in the head and neck region is a rare and sometimes life-threatening adverse reaction to angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs). Few studies have investigated the association of common variants with this extreme reaction, but none have explored the combined influence of rare variants yet. Adjudicated cases of ACEI-induced angioedema (ACEI-AE) or ARB-induced angioedema (ARB-AE) and controls were recruited at five different centers. Sequencing of 1,066 samples (408 ACEI-AE, ARB-AE, and 658 controls) was performed using exome-enriched sequence data. A common variant of the F5 gene that causes an increase in blood clotting (rs6025, p.Arg506Gln, also called factor V Leiden), was significantly associated with both ACEI-AE and ARB-AE (odds ratio: 2.85, 95% confidence interval (CI), 1.89-4.25). A burden test analysis of five rare missense variants in F5 was also found to be associated with ACEI-AE or ARB-AE, P = 2.09 \u00d7 10-3 . A combined gene risk score of these variants, and the common variants rs6025 and rs6020, showed that individuals carrying at least one variant had 2.21 (95% CI, 1.49-3.27, P = 6.30 \u00d7 10-9 ) times the odds of having ACEI-AE or ARB-AE. The increased risk due to the common Leiden allele was confirmed in a genome-wide association study from the United States. A high risk of angioedema was also observed for the rs6020 variant that is the main coagulation defect-causing variant in black African and Asian populations. We found that deleterious missense variants in F5 are associated with an increased risk of ACEI-AE or ARB-AE.", "doi": "10.1002/cpt.1927", "pmid": "32496628", "labels": {"National Genomics Infrastructure": "Collaborative", "NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative"}, "xrefs": [], "notes": [], "created": "2020-11-16T09:14:47.719Z", "modified": "2021-11-10T12:44:38.679Z"}, {"entity": "publication", "iuid": "2fcbe860666e49c1a3a45f5de295f491", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2fcbe860666e49c1a3a45f5de295f491.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2fcbe860666e49c1a3a45f5de295f491"}}, "title": "Angiotensin-converting enzyme 2 (ACE2) levels in relation to risk factors for COVID-19 in two large cohorts of patients with atrial fibrillation.", "authors": [{"family": "Wallentin", "given": "Lars", "initials": "L", "orcid": "0000-0003-0378-6531", "researcher": {"href": "https://publications.scilifelab.se/researcher/388a76db2e4d423882d1cf2bf6b7d985.json"}}, {"family": "Lindb\u00e4ck", "given": "Johan", "initials": "J", "orcid": "0000-0002-6473-8798", "researcher": {"href": "https://publications.scilifelab.se/researcher/3cea1044231d40b5a3bf186485d97cd4.json"}}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Hijazi", "given": "Ziad", "initials": "Z"}, {"family": "Eikelboom", "given": "John W", "initials": "JW"}, {"family": "Ezekowitz", "given": "Michael D", "initials": "MD", "orcid": "0000-0003-3623-2252", "researcher": {"href": "https://publications.scilifelab.se/researcher/43f3a6f18de74bb6a632b1b16d1b778c.json"}}, {"family": "Granger", "given": "Christopher B", "initials": "CB"}, {"family": "Lopes", "given": "Renato D", "initials": "RD"}, {"family": "Yusuf", "given": "Salim", "initials": "S"}, {"family": "Oldgren", "given": "Jonas", "initials": "J", "orcid": "0000-0002-9969-3921", "researcher": {"href": "https://publications.scilifelab.se/researcher/14e1774fd1674edeaaa64a3f86d051d7.json"}}, {"family": "Siegbahn", "given": "Agneta", "initials": "A"}], "type": "journal article", "published": "2020-11-01", "journal": {"title": "Eur. Heart J.", "issn": "1522-9645", "volume": "41", "issue": "41", "pages": "4037-4046", "issn-l": "0195-668X"}, "abstract": "The global COVID-19 pandemic is caused by the SARS-CoV-2 virus entering human cells using angiotensin-converting enzyme 2 (ACE2) as a cell surface receptor. ACE2 is shed to the circulation, and a higher plasma level of soluble ACE2 (sACE2) might reflect a higher cellular expression of ACE2. The present study explored the associations between sACE2 and clinical factors, cardiovascular biomarkers, and genetic variability.\n\nPlasma and DNA samples were obtained from two international cohorts of elderly patients with atrial fibrillation (n = 3999 and n = 1088). The sACE2 protein level was measured by the Olink Proteomics\u00ae Multiplex CVD II96 \u00d7 96 panel. Levels of the biomarkers high-sensitive cardiac troponin T (hs-cTnT), N-terminal probrain natriuretic peptide (NT-proBNP), growth differentiation factor 15 (GDF-15), C-reactive protein, interleukin-6, D-dimer, and cystatin-C were determined by immunoassays. Genome-wide association studies were performed by Illumina chips. Higher levels of sACE2 were statistically significantly associated with male sex, cardiovascular disease, diabetes, and older age. The sACE2 level was most strongly associated with the levels of GDF-15, NT-proBNP, and hs-cTnT. When adjusting for these biomarkers, only male sex remained associated with sACE2. We found no statistically significant genetic regulation of the sACE2 level.\n\nMale sex and clinical or biomarker indicators of biological ageing, cardiovascular disease, and diabetes are associated with higher sACE2 levels. The levels of GDF-15 and NT-proBNP, which are associated both with the sACE2 level and a higher risk for mortality and cardiovascular disease, might contribute to better identification of risk for severe COVID-19 infection.", "doi": "10.1093/eurheartj/ehaa697", "pmid": "32984892", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pii", "key": "5912214"}, {"db": "pmc", "key": "PMC7543499"}, {"db": "ClinicalTrials.gov", "key": "NCT00262600"}, {"db": "ClinicalTrials.gov", "key": "NCT00412984"}], "notes": [], "created": "2020-10-20T06:59:27.289Z", "modified": "2021-12-10T09:29:55.907Z"}, {"entity": "publication", "iuid": "cbca211bcfb64e4f9988962d8cef7fdb", "links": {"self": {"href": "https://publications.scilifelab.se/publication/cbca211bcfb64e4f9988962d8cef7fdb.json"}, "display": {"href": "https://publications.scilifelab.se/publication/cbca211bcfb64e4f9988962d8cef7fdb"}}, "title": "Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.", "authors": [{"family": "Folkersen", "given": "Lasse", "initials": "L", "orcid": "0000-0003-0708-9530", "researcher": {"href": "https://publications.scilifelab.se/researcher/7202a83ff6484d5c9d77f448f93c6520.json"}}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Wang", "given": "Qin", "initials": "Q"}, {"family": "Hansen", "given": "Daniel Hvidberg", "initials": "DH", "orcid": "0000-0003-3285-605X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c74393b778ad4c989c6f6f2290eb5f94.json"}}, {"family": "Hedman", "given": "\u00c5sa K", "initials": "\u00c5K"}, {"family": "Schork", "given": "Andrew", "initials": "A"}, {"family": "Page", "given": "Karen", "initials": "K"}, {"family": "Zhernakova", "given": "Daria V", "initials": "DV"}, {"family": "Wu", "given": "Yang", "initials": "Y", "orcid": "0000-0002-0128-7280", "researcher": {"href": "https://publications.scilifelab.se/researcher/5c005cb8ac0a40c38b07b26fc3184354.json"}}, {"family": "Peters", "given": "James", "initials": "J"}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Bergen", "given": "Sarah E", "initials": "SE"}, {"family": "Boutin", "given": "Thibaud S", "initials": "TS"}, {"family": "Bretherick", "given": "Andrew D", "initials": "AD", "orcid": "0000-0001-9258-3140", "researcher": {"href": "https://publications.scilifelab.se/researcher/177c5c98460c44a79ff1f07c5df05b55.json"}}, {"family": "Enroth", "given": "Stefan", "initials": "S", "orcid": "0000-0002-5056-9137", "researcher": {"href": "https://publications.scilifelab.se/researcher/16bb97ef16ee49f3ae0c7ea0495fd971.json"}}, {"family": "Kalnapenkis", "given": "Anette", "initials": "A"}, {"family": "G\u00e5din", "given": "Jesper R", "initials": "JR"}, {"family": "Suur", "given": "Bianca E", "initials": "BE"}, {"family": "Chen", "given": "Yan", "initials": "Y"}, {"family": "Matic", "given": "Ljubica", "initials": "L"}, {"family": "Gale", "given": "Jeremy D", "initials": "JD"}, {"family": "Lee", "given": "Julie", "initials": "J", "orcid": "0000-0001-6090-6718", "researcher": {"href": "https://publications.scilifelab.se/researcher/724fc189ac8d4764a924f07fe7806058.json"}}, {"family": "Zhang", "given": "Weidong", "initials": "W"}, {"family": "Quazi", "given": "Amira", "initials": "A"}, {"family": "Ala-Korpela", "given": "Mika", "initials": "M", "orcid": "0000-0001-5905-1206", "researcher": {"href": "https://publications.scilifelab.se/researcher/9a1d51911c554533b4f458993efd95e7.json"}}, {"family": "Choi", "given": "Seung Hoan", "initials": "SH"}, {"family": "Claringbould", "given": "Annique", "initials": "A", "orcid": "0000-0002-9201-6557", "researcher": {"href": "https://publications.scilifelab.se/researcher/f273594a78dd47b88de6322bfae64900.json"}}, {"family": "Danesh", "given": "John", "initials": "J"}, {"family": "Davey Smith", "given": "George", "initials": "G", "orcid": "0000-0002-1407-8314", "researcher": {"href": "https://publications.scilifelab.se/researcher/0790d5850377432087ad3900af0044e0.json"}}, {"family": "de Masi", "given": "Federico", "initials": "F"}, {"family": "Elmst\u00e5hl", "given": "S\u00f6lve", "initials": "S"}, {"family": "Engstr\u00f6m", "given": "Gunnar", "initials": "G"}, {"family": "Fauman", "given": "Eric", "initials": "E", "orcid": "0000-0002-9739-0249", "researcher": {"href": "https://publications.scilifelab.se/researcher/33640d6d585f4715ad0754af256954fd.json"}}, {"family": "Fernandez", "given": "Celine", "initials": "C", "orcid": "0000-0003-1290-4982", "researcher": {"href": "https://publications.scilifelab.se/researcher/0403fdacd924464a913261e53f6e6083.json"}}, {"family": "Franke", "given": "Lude", "initials": "L", "orcid": "0000-0002-5159-8802", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee63161f78274a53b615c05555b81a10.json"}}, {"family": "Franks", "given": "Paul W", "initials": "PW", "orcid": "0000-0002-0520-7604", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ebbf40c0f7e49dd8c75a2b6cbf27276.json"}}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V", "orcid": "0000-0003-3423-2021", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c95879213664e00b66aeee2e8ece975.json"}}, {"family": "Haley", "given": "Chris", "initials": "C", "orcid": "0000-0002-9811-0210", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4fee769cfe84186abbc285881e0529c.json"}}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "Ingason", "given": "Andres", "initials": "A"}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications.scilifelab.se/researcher/76265c54961046e99bdb0439f9ae1d34.json"}}, {"family": "Joshi", "given": "Peter K", "initials": "PK"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Lubitz", "given": "Steven", "initials": "S", "orcid": "0000-0002-9599-4866", "researcher": {"href": "https://publications.scilifelab.se/researcher/25bb007311104c92983dbcce80f72260.json"}}, {"family": "Palmer", "given": "Tom", "initials": "T", "orcid": "0000-0003-4655-4511", "researcher": {"href": "https://publications.scilifelab.se/researcher/7f71dc0736834c72a59b9b14f1ae471a.json"}}, {"family": "Macdonald-Dunlop", "given": "Erin", "initials": "E", "orcid": "0000-0001-6569-6086", "researcher": {"href": "https://publications.scilifelab.se/researcher/af015c7cf68b470cbca81fe7fa1b58c4.json"}}, {"family": "Magnusson", "given": "Martin", "initials": "M", "orcid": "0000-0003-1710-5936", "researcher": {"href": "https://publications.scilifelab.se/researcher/6126a96481bb4c398a6e8ab6fa596b28.json"}}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Michaelsson", "given": "Karl", "initials": "K", "orcid": "0000-0003-2815-1217", "researcher": {"href": "https://publications.scilifelab.se/researcher/eff63868e95240f695d47e871e31947f.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R"}, {"family": "Nagle", "given": "Michael W", "initials": "MW", "orcid": "0000-0002-4677-7582", "researcher": {"href": "https://publications.scilifelab.se/researcher/5da07a509b1740648199997ee5ea73a3.json"}}, {"family": "Nilsson", "given": "Peter M", "initials": "PM", "orcid": "0000-0002-5652-8459", "researcher": {"href": "https://publications.scilifelab.se/researcher/f23c2a10ac2a4d73a8f62b94855635f1.json"}}, {"family": "Nilsson", "given": "Jan", "initials": "J", "orcid": "0000-0002-9752-7479", "researcher": {"href": "https://publications.scilifelab.se/researcher/8777140448bc47f0a7984db3c15c0e23.json"}}, {"family": "Orho-Melander", "given": "Marju", "initials": "M"}, {"family": "Polasek", "given": "Ozren", "initials": "O"}, {"family": "Prins", "given": "Bram", "initials": "B", "orcid": "0000-0001-5774-034X", "researcher": {"href": "https://publications.scilifelab.se/researcher/fd911c5f0da149afb2b4184892ed4b71.json"}}, {"family": "P\u00e5lsson", "given": "Erik", "initials": "E"}, {"family": "Qi", "given": "Ting", "initials": "T"}, {"family": "Sj\u00f6gren", "given": "Marketa", "initials": "M"}, {"family": "Sundstr\u00f6m", "given": "Johan", "initials": "J", "orcid": "0000-0003-2247-8454", "researcher": {"href": "https://publications.scilifelab.se/researcher/91a40d3c138d43f2b0d38f66be4b71c7.json"}}, {"family": "Surendran", "given": "Praveen", "initials": "P"}, {"family": "V\u00f5sa", "given": "Urmo", "initials": "U"}, {"family": "Werge", "given": "Thomas", "initials": "T", "orcid": "0000-0003-1829-0766", "researcher": {"href": "https://publications.scilifelab.se/researcher/89e727c9b54c4e23b9104fbc10b7b4e3.json"}}, {"family": "Wernersson", "given": "Rasmus", "initials": "R"}, {"family": "Westra", "given": "Harm-Jan", "initials": "H"}, {"family": "Yang", "given": "Jian", "initials": "J"}, {"family": "Zhernakova", "given": "Alexandra", "initials": "A"}, {"family": "\u00c4rnl\u00f6v", "given": "Johan", "initials": "J"}, {"family": "Fu", "given": "Jingyuan", "initials": "J", "orcid": "0000-0001-5578-1236", "researcher": {"href": "https://publications.scilifelab.se/researcher/e55de478e461486087cec6a8d073666f.json"}}, {"family": "Smith", "given": "J Gustav", "initials": "JG"}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T", "orcid": "0000-0003-1982-6569", "researcher": {"href": "https://publications.scilifelab.se/researcher/d72619c1e29d44e8b8454902d2af8d9e.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Landen", "given": "Mikael", "initials": "M", "orcid": "0000-0002-4496-6451", "researcher": {"href": "https://publications.scilifelab.se/researcher/792e2b8b8da94572a4d2815703d29749.json"}}, {"family": "Siegbahn", "given": "Agneta", "initials": "A"}, {"family": "Wilson", "given": "James F", "initials": "JF"}, {"family": "Wallentin", "given": "Lars", "initials": "L"}, {"family": "Butterworth", "given": "Adam S", "initials": "AS", "orcid": "0000-0002-6915-9015", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b8c140c80d942c4b1b684876e4d6180.json"}}, {"family": "Holmes", "given": "Michael V", "initials": "MV", "orcid": "0000-0001-6617-0879", "researcher": {"href": "https://publications.scilifelab.se/researcher/2fc91d91672d47fa9759a2af3e3f1f3a.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E", "orcid": "0000-0003-2256-6972", "researcher": {"href": "https://publications.scilifelab.se/researcher/689bc741ea6547d18de7080c84d0193e.json"}}, {"family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d.json"}}], "type": "journal article", "published": "2020-10-00", "journal": {"title": "Nat Metab", "issn": "2522-5812", "issn-l": "2522-5812", "volume": "2", "issue": "10", "pages": "1135-1148"}, "abstract": "Circulating proteins are vital in human health and disease and are frequently used as biomarkers for clinical decision-making or as targets for pharmacological intervention. Here, we map and replicate protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals, resulting in 451 pQTLs for 85 proteins. For each protein, we further perform pathway mapping to obtain trans-pQTL gene and regulatory designations. We substantiate these regulatory findings with orthogonal evidence for trans-pQTLs using mouse knockdown experiments (ABCA1 and TRIB1) and clinical trial results (chemokine receptors CCR2 and CCR5), with consistent regulation. Finally, we evaluate known drug targets, and suggest new target candidates or repositioning opportunities using Mendelian randomization. This identifies 11 proteins with causal evidence of involvement in human disease that have not previously been targeted, including EGF, IL-16, PAPPA, SPON1, F3, ADM, CASP-8, CHI3L1, CXCL16, GDF15 and MMP-12. Taken together, these findings demonstrate the utility of large-scale mapping of the genetics of the proteome and provide a resource for future precision studies of circulating proteins in human health.", "doi": "10.1038/s42255-020-00287-2", "pmid": "33067605", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s42255-020-00287-2"}, {"db": "pmc", "key": "PMC7611474"}, {"db": "mid", "key": "EMS131454"}], "notes": [], "created": "2020-10-20T06:59:28.770Z", "modified": "2024-11-27T16:17:54.447Z"}]}