{"entity": "researcher", "timestamp": "2026-06-10T22:21:43.282Z", "family": "Hallberg", "given": "Par", "initials": "P", "orcid": "0000-0003-3465-3280", "affiliations": ["Department of Medical Sciences, Clinical Pharmacology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/968cb3fe072d4ed09739e8be6668d168.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/968cb3fe072d4ed09739e8be6668d168"}}, "publications": [{"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": "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": "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": "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"}]}