{"entity": "researcher", "timestamp": "2026-09-28T11:20:20.472Z", "family": "McEvoy", "given": "Laurence", "initials": "L", "orcid": "0000-0002-2169-6735", "affiliations": ["Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, UK."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/7097746014394c80ac7c7906921e2caf.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/7097746014394c80ac7c7906921e2caf"}}, "publications": [{"entity": "publication", "iuid": "f1c3acfeaf1843019bc31db3d8d15cf5", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f1c3acfeaf1843019bc31db3d8d15cf5.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f1c3acfeaf1843019bc31db3d8d15cf5"}}, "title": "Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.", "authors": [{"family": "Nicoletti", "given": "Paola", "initials": "P"}, {"family": "Barrett", "given": "Sarah", "initials": "S"}, {"family": "McEvoy", "given": "Laurence", "initials": "L", "orcid": "0000-0002-2169-6735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7097746014394c80ac7c7906921e2caf.json"}}, {"family": "Daly", "given": "Ann K", "initials": "AK", "orcid": "0000-0002-7321-0629", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0bee594066be42f9ac47ed02258259f4.json"}}, {"family": "Aithal", "given": "Guruprasad", "initials": "G"}, {"family": "Lucena", "given": "M Isabel", "initials": "MI", "orcid": "0000-0001-9586-4896", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83416a8689a54d9681929278434cddf4.json"}}, {"family": "Andrade", "given": "Raul J", "initials": "RJ", "orcid": "0000-0002-1565-0757", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d9a1233b1a6412b8fb0f698f9d671f2.json"}}, {"family": "Wadelius", "given": "Mia", "initials": "M", "orcid": "0000-0002-6368-2622", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c1a663f51c194a8f8060b6fa54f11ac6.json"}}, {"family": "Hallberg", "given": "P\u00e4r", "initials": "P", "orcid": "0000-0003-3465-3280", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cbedc282a27446f7992646cf3608c36f.json"}}, {"family": "Stephens", "given": "Camilla", "initials": "C"}, {"family": "Bjornsson", "given": "Einar S", "initials": "ES"}, {"family": "Friedmann", "given": "Peter", "initials": "P"}, {"family": "Kainu", "given": "Kati", "initials": "K"}, {"family": "Laitinen", "given": "Tarja", "initials": "T"}, {"family": "Marson", "given": "Anthony", "initials": "A"}, {"family": "Molokhia", "given": "Mariam", "initials": "M"}, {"family": "Phillips", "given": "Elizabeth", "initials": "E"}, {"family": "Pichler", "given": "Werner", "initials": "W"}, {"family": "Romano", "given": "Antonino", "initials": "A"}, {"family": "Shear", "given": "Neil", "initials": "N", "orcid": "0000-0001-9151-1145", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8e78e26a7630428db32d0f4a879a6380.json"}}, {"family": "Sills", "given": "Graeme", "initials": "G"}, {"family": "Tanno", "given": "Luciana K", "initials": "LK"}, {"family": "Swale", "given": "Ashley", "initials": "A", "orcid": "0000-0002-2985-5059", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/49b12d4d6eb64049859be60ff93d4b9b.json"}}, {"family": "Floratos", "given": "Aris", "initials": "A"}, {"family": "Shen", "given": "Yufeng", "initials": "Y"}, {"family": "Nelson", "given": "Matthew R", "initials": "MR"}, {"family": "Watkins", "given": "Paul B", "initials": "PB"}, {"family": "Daly", "given": "Mark J", "initials": "MJ"}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Alfirevic", "given": "Ana", "initials": "A"}, {"family": "Pirmohamed", "given": "Munir", "initials": "M", "orcid": "0000-0002-7534-7266", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cfc11a80c6954524b7eaca41e0f24202.json"}}], "type": "journal article", "published": "2019-11-00", "journal": {"title": "Clin. Pharmacol. Ther.", "issn": "1532-6535", "volume": "106", "issue": "5", "pages": "1028-1036", "issn-l": "0009-9236"}, "abstract": "Carbamazepine (CBZ) causes life-threating T-cell-mediated hypersensitivity reactions, including serious cutaneous adverse reactions (SCARs) and drug-induced liver injury (CBZ-DILI). In order to evaluate shared or phenotype-specific genetic predisposing factors for CBZ hypersensitivity reactions, we performed a meta-analysis of two genomewide association studies (GWAS) on a total of 43 well-phenotyped Northern and Southern European CBZ-SCAR cases and 10,701 population controls and a GWAS on 12 CBZ-DILI cases and 8,438 ethnically matched population controls. HLA-A*31:01 was identified as the strongest genetic predisposing factor for both CBZ-SCAR (odds ratio (OR) = 8.0; 95% CI 4.10-15.80; P = 1.2 \u00d7 10-9 ) and CBZ-DILI (OR = 7.3; 95% CI 2.47-23.67; P = 0.0004) in European populations. The association with HLA-A*31:01 in patients with SCAR was mainly driven by hypersensitivity syndrome (OR = 12.9; P = 2.1 \u00d7 10-9 ) rather than by Stevens-Johnson syndrome/toxic epidermal necrolysis cases, which showed an association with HLA-B*57:01. We also identified a novel risk locus mapping to ALK only for CBZ-SCAR cases, which needs replication in additional cohorts and functional evaluation.", "doi": "10.1002/cpt.1493", "pmid": "31066027", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1575961"}, {"db": "pmc", "key": "PMC7156285"}], "notes": [], "created": "2026-09-23T09:15:01.671Z", "modified": "2026-09-23T09:15:01.990Z"}]}