{"entity": "researcher", "timestamp": "2026-07-15T16:38:56.250Z", "family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "affiliations": ["Department of Medicine, Karolinska Institute, Solna, Sweden. anders.malarstig@ki.se.", "SCALLOP consortium, . anders.malarstig@ki.se.", "Emerging Science & Innovation, Pfizer Worldwide Research, Development and Medical, Cambridge, MA, USA. anders.malarstig@ki.se."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d"}}, "publications": [{"entity": "publication", "iuid": "19d4f0ca29364061b137e9116162d5d2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/19d4f0ca29364061b137e9116162d5d2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/19d4f0ca29364061b137e9116162d5d2"}}, "title": "Genetically Determined Inflammation-Related Proteins in Asthma and Type-2 Signatures.", "authors": [{"family": "Hernandez-Pacheco", "given": "Natalia", "initials": "N", "orcid": "0000-0002-6313-1847", "researcher": {"href": "https://publications.scilifelab.se/researcher/833e75515e024830b827806684d61126.json"}}, {"family": "Bj\u00f6rkander", "given": "Sophia", "initials": "S", "orcid": "0000-0002-4600-2883", "researcher": {"href": "https://publications.scilifelab.se/researcher/310af30b841741a790046af03a3cee6d.json"}}, {"family": "Merid", "given": "Simon Kebede", "initials": "SK", "orcid": "0000-0001-5974-7676", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7a04c6538814b089994c7a822ecf07f.json"}}, {"family": "Kere", "given": "Maura", "initials": "M", "orcid": "0000-0002-5725-2773", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d213ed52d084d79a7a87e09a3688d01.json"}}, {"family": "Kumar", "given": "Ashish", "initials": "A", "orcid": "0000-0002-7075-5930", "researcher": {"href": "https://publications.scilifelab.se/researcher/de86e6bb6d154c2db787a769da96323b.json"}}, {"family": "Klevebro", "given": "Susanna", "initials": "S", "orcid": "0000-0002-1261-6502", "researcher": {"href": "https://publications.scilifelab.se/researcher/2cace10c20c847f6a04259937e74891e.json"}}, {"family": "Mogensen", "given": "Ida", "initials": "I", "orcid": "0000-0002-0198-2718", "researcher": {"href": "https://publications.scilifelab.se/researcher/a8e3b914932c4470ba02ff73278972c8.json"}}, {"family": "Ekstr\u00f6m", "given": "Sandra", "initials": "S", "orcid": "0000-0002-2060-8190", "researcher": {"href": "https://publications.scilifelab.se/researcher/d813a2fda4fc410cb5db71c62af9d0ea.json"}}, {"family": "Janson", "given": "Christer", "initials": "C", "orcid": "0000-0001-5093-6980", "researcher": {"href": "https://publications.scilifelab.se/researcher/bae457d633714159a73704f9ebe7bfa6.json"}}, {"family": "Palmberg", "given": "Lena", "initials": "L", "orcid": "0000-0001-5650-4484", "researcher": {"href": "https://publications.scilifelab.se/researcher/c77734a210e146dbaadc33363eaaaa6f.json"}}, {"family": "van Hage", "given": "Marianne", "initials": "M", "orcid": "0000-0003-3091-1596", "researcher": {"href": "https://publications.scilifelab.se/researcher/2e9a55cd378c46d5a1fc6b4694423849.json"}}, {"family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d.json"}}, {"family": "Merritt", "given": "Anne-Sophie", "initials": "AS", "orcid": "0000-0002-4497-1779", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9a96b69dc76435a83ea3dc089a5b657.json"}}, {"family": "Pershagen", "given": "G\u00f6ran", "initials": "G", "orcid": "0000-0002-9701-1130", "researcher": {"href": "https://publications.scilifelab.se/researcher/9d97eee1803d4ce3a85c1fcb423c75d9.json"}}, {"family": "Bergstr\u00f6m", "given": "Anna", "initials": "A", "orcid": "0000-0002-7981-6314", "researcher": {"href": "https://publications.scilifelab.se/researcher/70d058e4d5bc49d7a3c958950c9d4e6d.json"}}, {"family": "Kull", "given": "Inger", "initials": "I", "orcid": "0000-0001-6096-3771", "researcher": {"href": "https://publications.scilifelab.se/researcher/7f248045358c4711b1d10d7b9fe9649c.json"}}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications.scilifelab.se/researcher/aba5822711b246b397fffacb7ae403b3.json"}}, {"family": "Mel\u00e9n", "given": "Erik", "initials": "E", "orcid": "0000-0002-8248-0663", "researcher": {"href": "https://publications.scilifelab.se/researcher/3af5a23ba0a847778eea300f745cb143.json"}}], "type": "journal article", "published": "2025-06-00", "journal": {"title": "Allergy", "issn": "1398-9995", "volume": "80", "issue": "6", "pages": "1702-1714", "issn-l": "0105-4538"}, "abstract": "Protein quantitative trait loci (pQTLs) remain underexplored in asthma but might provide valuable insights into the underlying molecular mechanisms. This study aimed to investigate associations between genetic variation and inflammation-related plasma proteins and to assess differences in the levels of genetically determined proteins in subjects with signatures of type-2 inflammation and/or asthma.\n\nA pQTL mapping of 92 inflammation-related plasma proteins was conducted in young adults from the Swedish BAMSE cohort (n = 1538). Replication of sentinel pQTLs was attempted, and the overlap and colocalization of pQTLs with expression quantitative trait loci (eQTLs) were investigated using publicly available data. Proteins with significant pQTLs were tested for association with type-2 signatures defined as high levels of fractional exhaled nitric oxide, blood eosinophils, and/or sensitization to airborne allergens in subjects with or without asthma in BAMSE.\n\nForty-five sentinel pQTLs (33 cis, 12 trans) for 39 inflammation-related proteins were identified (p \u2264 7.14 \u00d7 10-11), and a high proportion of these were validated in independent populations. A high likelihood for colocalization of cis-pQTLs and cis-eQTLs was observed for 19 proteins in different tissues. Six of the 39 circulating proteins with significant pQTLs were associated with type-2 signatures and/or asthma, and matrix metalloproteinase-10 (MMP-10) showed the most significant associations.\n\nThese findings underscore the existence of a genetic component influencing the plasma levels of proteins involved in inflammatory processes, including MMP-10, which is suggested to have a role in high type-2 inflammation in asthma subjects.", "doi": "10.1111/all.16608", "pmid": "40464643", "labels": {"NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service", "Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12186602"}], "notes": [], "created": "2025-09-08T07:17:11.553Z", "modified": "2025-11-25T19:21:03.863Z"}, {"entity": "publication", "iuid": "e51b393a38794d448b63eda5594d8adf", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e51b393a38794d448b63eda5594d8adf.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e51b393a38794d448b63eda5594d8adf"}}, "title": "Evaluation of circulating plasma proteins in breast cancer using Mendelian randomisation.", "authors": [{"family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d.json"}}, {"family": "Grassmann", "given": "Felix", "initials": "F"}, {"family": "Dahl", "given": "Leo", "initials": "L", "orcid": "0000-0003-1492-3052", "researcher": {"href": "https://publications.scilifelab.se/researcher/d4df506f315c4289935b935a503efd56.json"}}, {"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications.scilifelab.se/researcher/531c153359bb400fb48c7324a3bd69ad.json"}}, {"family": "McLeod", "given": "Dianna", "initials": "D"}, {"family": "Gabrielson", "given": "Marike", "initials": "M"}, {"family": "Smith-Byrne", "given": "Karl", "initials": "K"}, {"family": "Thomas", "given": "Cecilia E", "initials": "CE", "orcid": "0000-0001-6201-6380", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a1156f987764218af202efbd76c31fd.json"}}, {"family": "Huang", "given": "Tzu-Hsuan", "initials": "TH", "orcid": "0000-0003-0650-582X", "researcher": {"href": "https://publications.scilifelab.se/researcher/009096335007406698aba18720a4455a.json"}}, {"family": "Forsberg", "given": "Simon K G", "initials": "SKG", "orcid": "0000-0002-7451-9222", "researcher": {"href": "https://publications.scilifelab.se/researcher/e97a399d54a94d56aa6cbd62425e27f6.json"}}, {"family": "Eriksson", "given": "Per", "initials": "P", "orcid": "0000-0001-7633-403X", "researcher": {"href": "https://publications.scilifelab.se/researcher/97fea086745a40e9a3a20baba08bb7b8.json"}}, {"family": "Ulfstedt", "given": "Mikael", "initials": "M"}, {"family": "Johansson", "given": "Mattias", "initials": "M"}, {"family": "Sokolov", "given": "Aleksandr V", "initials": "AV"}, {"family": "Schi\u00f6th", "given": "Helgi B", "initials": "HB"}, {"family": "Hall", "given": "Per", "initials": "P"}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications.scilifelab.se/researcher/aba5822711b246b397fffacb7ae403b3.json"}}, {"family": "Czene", "given": "Kamila", "initials": "K"}, {"family": "Hedman", "given": "\u00c5sa K", "initials": "\u00c5K", "orcid": "0000-0001-5413-204X", "researcher": {"href": "https://publications.scilifelab.se/researcher/2b9eaa6a5dfc4ecf8bf82ece793cd457.json"}}], "type": "journal article", "published": "2023-11-24", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "14", "issue": "1", "pages": "7680", "issn-l": "2041-1723"}, "abstract": "Biomarkers for early detection of breast cancer may complement population screening approaches to enable earlier and more precise treatment. The blood proteome is an important source for biomarker discovery but so far, few proteins have been identified with breast cancer risk. Here, we measure 2929 unique proteins in plasma from 598 women selected from the Karolinska Mammography Project to explore the association between protein levels, clinical characteristics, and gene variants, and to identify proteins with a causal role in breast cancer. We present 812 cis-acting protein quantitative trait loci for 737 proteins which are used as instruments in Mendelian randomisation analyses of breast cancer risk. Of those, we present five proteins (CD160, DNPH1, LAYN, LRRC37A2 and TLR1) that show a potential causal role in breast cancer risk with confirmatory results in independent cohorts. Our study suggests that these proteins should be further explored as biomarkers and potential drug targets in breast cancer.", "doi": "10.1038/s41467-023-43485-8", "pmid": "37996402", "labels": {"Affinity Proteomics Uppsala": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10667261"}, {"db": "pii", "key": "10.1038/s41467-023-43485-8"}], "notes": [], "created": "2023-11-29T18:54:00.962Z", "modified": "2024-01-16T13:48:31.653Z"}, {"entity": "publication", "iuid": "98c56bf4a6f549c0895f3cef98a9f04d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/98c56bf4a6f549c0895f3cef98a9f04d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/98c56bf4a6f549c0895f3cef98a9f04d"}}, "title": "Genetic Variants Associated with Non-Alcoholic Fatty Liver Disease Do Not Associate with Measures of Sub-Clinical Atherosclerosis: Results from the IMPROVE Study.", "authors": [{"family": "Castaldo", "given": "Luigi", "initials": "L", "orcid": "0000-0001-6883-9396", "researcher": {"href": "https://publications.scilifelab.se/researcher/2e444841bc62402e82952cc4d24be1b9.json"}}, {"family": "Laguzzi", "given": "Federica", "initials": "F"}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Baldassarre", "given": "Damiano", "initials": "D"}, {"family": "Veglia", "given": "Fabrizio", "initials": "F", "orcid": "0000-0002-9378-8874", "researcher": {"href": "https://publications.scilifelab.se/researcher/46cd876aad8b495d982cf2a3ac7bb6aa.json"}}, {"family": "Vigo", "given": "Lorenzo", "initials": "L"}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Aubrecht", "given": "Jiri", "initials": "J"}, {"family": "Leander", "given": "Karin", "initials": "K"}, {"family": "Pirro", "given": "Matteo", "initials": "M"}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Ritieni", "given": "Alberto", "initials": "A", "orcid": "0000-0003-0314-8839", "researcher": {"href": "https://publications.scilifelab.se/researcher/920e6797a9ac4ea088cd481b11e85a7f.json"}}, {"family": "Di Minno", "given": "Giovanni", "initials": "G"}, {"family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d.json"}}, {"family": "Gigante", "given": "Bruna", "initials": "B"}], "type": "journal article", "published": "2020-10-22", "journal": {"title": "Genes", "issn": "2073-4425", "volume": "11", "issue": "11", "pages": "1243", "issn-l": "2073-4425"}, "abstract": "Non-alcoholic fatty liver disease (NAFLD) and atherosclerosis-related cardiovascular diseases (CVD) share common metabolic pathways. We explored the association between three NAFLD-associated single nucleotide polymorphisms (SNPs) rs738409, rs10401969, and rs1260326 with sub-clinical atherosclerosis estimated by the carotid intima-media thickness (c-IMT) and the inter-adventitia common carotid artery diameter (ICCAD) in patients free from clinically overt NAFLD and CVD. The study population is the IMPROVE, a multicenter European study (n = 3711). C-IMT measures and ICCAD were recorded using a standardized protocol. Linear regression with an additive genetic model was used to test for association of the three SNPs with c-IMT and ICCAD. In secondary analyses, the association of the three SNPs with c-IMT and ICCAD was tested after stratification by alanine aminotransferase levels (ALT). No associations were found between rs738409, rs1260326, rs10401969, and c-IMT or ICCAD. Rs738409-G and rs10401969-C were associated with ALT levels (p < 0.001). In patients with ALT levels above 28 U/L (highest quartile), we observed an association between rs10401969-C and c-IMT measures of c-IMTmax and c-IMTmean-max (p = 0.018 and 0.021, respectively). In conclusion, NAFLD-associated SNPs do not associate with sub-clinical atherosclerosis measures. However, our results suggest a possible mediating function of impaired liver function on atherosclerosis development.", "doi": "10.3390/genes11111243", "pmid": "33105679", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "genes11111243"}, {"db": "pmc", "key": "PMC7690395"}], "notes": [], "created": "2020-11-05T14:07:51.289Z", "modified": "2021-11-10T12:46:17.904Z"}, {"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"}, {"entity": "publication", "iuid": "3833bdb907964e41b9acfb00520e1629", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3833bdb907964e41b9acfb00520e1629.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3833bdb907964e41b9acfb00520e1629"}}, "title": "Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.", "authors": [{"family": "Folkersen", "given": "Lasse", "initials": "L", "orcid": "0000-0003-0708-9530", "researcher": {"href": "https://publications.scilifelab.se/researcher/7202a83ff6484d5c9d77f448f93c6520.json"}}, {"family": "Fauman", "given": "Eric", "initials": "E", "orcid": "0000-0002-9739-0249", "researcher": {"href": "https://publications.scilifelab.se/researcher/33640d6d585f4715ad0754af256954fd.json"}}, {"family": "Sabater-Lleal", "given": "Maria", "initials": "M", "orcid": "0000-0002-0128-379X", "researcher": {"href": "https://publications.scilifelab.se/researcher/588239fdbde94de0b5de738fd9c7a8a9.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ"}, {"family": "Fr\u00e5nberg", "given": "Mattias", "initials": "M"}, {"family": "Sennblad", "given": "Bengt", "initials": "B"}, {"family": "Baldassarre", "given": "Damiano", "initials": "D", "orcid": "0000-0002-2766-8882", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c131cad5784434eb16cf720f7964ecb.json"}}, {"family": "Veglia", "given": "Fabrizio", "initials": "F"}, {"family": "Humphries", "given": "Steve E", "initials": "SE", "orcid": "0000-0002-8221-6547", "researcher": {"href": "https://publications.scilifelab.se/researcher/7669b620701f4ebd97f91594c9a4989e.json"}}, {"family": "Rauramaa", "given": "Rainer", "initials": "R"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Kurl", "given": "Sudhir", "initials": "S"}, {"family": "Mannarino", "given": "Elmo", "initials": "E"}, {"family": "Enroth", "given": "Stefan", "initials": "S", "orcid": "0000-0002-5056-9137", "researcher": {"href": "https://publications.scilifelab.se/researcher/16bb97ef16ee49f3ae0c7ea0495fd971.json"}}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications.scilifelab.se/researcher/76265c54961046e99bdb0439f9ae1d34.json"}}, {"family": "Enroth", "given": "Sofia Bosdotter", "initials": "SB"}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Lindgren", "given": "Cecilia", "initials": "C"}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V"}, {"family": "Silveira", "given": "Angela", "initials": "A"}, {"family": "Franco-Cereceda", "given": "Anders", "initials": "A"}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "IMPROVE study group", "given": "", "initials": ""}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Brunak", "given": "S\u00f8ren", "initials": "S"}, {"family": "Eriksson", "given": "Per", "initials": "P", "orcid": "0000-0002-5635-2692", "researcher": {"href": "https://publications.scilifelab.se/researcher/247b26c7360d4032b9cecc81bfac3ed0.json"}}, {"family": "Ziemek", "given": "Daniel", "initials": "D"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"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": "2017-04-00", "journal": {"title": "PLoS Genet.", "issn": "1553-7404", "issn-l": "1553-7390", "volume": "13", "issue": "4", "pages": "e1006706"}, "abstract": "Recent advances in highly multiplexed immunoassays have allowed systematic large-scale measurement of hundreds of plasma proteins in large cohort studies. In combination with genotyping, such studies offer the prospect to 1) identify mechanisms involved with regulation of protein expression in plasma, and 2) determine whether the plasma proteins are likely to be causally implicated in disease. We report here the results of genome-wide association (GWA) studies of 83 proteins considered relevant to cardiovascular disease (CVD), measured in 3,394 individuals with multiple CVD risk factors. We identified 79 genome-wide significant (p<5e-8) association signals, 55 of which replicated at P<0.0007 in separate validation studies (n = 2,639 individuals). Using automated text mining, manual curation, and network-based methods incorporating information on expression quantitative trait loci (eQTL), we propose plausible causal mechanisms for 25 trans-acting loci, including a potential post-translational regulation of stem cell factor by matrix metalloproteinase 9 and receptor-ligand pairs such as RANK-RANK ligand. Using public GWA study data, we further evaluate all 79 loci for their causal effect on coronary artery disease, and highlight several potentially causal associations. Overall, a majority of the plasma proteins studied showed evidence of regulation at the genetic level. Our results enable future studies of the causal architecture of human disease, which in turn should aid discovery of new drug targets.", "doi": "10.1371/journal.pgen.1006706", "pmid": "28369058", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Clinical Biomarkers": "Service", "PLA and Single Cell Proteomics": "Service", "Affinity Proteomics Uppsala": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "PGENETICS-D-16-01965"}, {"db": "pmc", "key": "PMC5393901"}], "notes": [], "created": "2017-10-25T15:18:21.171Z", "modified": "2024-01-16T13:48:48.159Z"}]}