{"entity": "researcher", "timestamp": "2026-09-28T11:44:40.653Z", "family": "Andrade", "given": "Raul J", "initials": "RJ", "orcid": "0000-0002-1565-0757", "affiliations": ["UGC Digestivo, Clinical Pharmacology Service, Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga (IBIMA), Hospital Universitario Virgen de la Victoria, Universidad de M\u00e1laga, M\u00e1laga, Spain.", "Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas y Digestivas (CIBERehd), Madrid, Spain."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d9a1233b1a6412b8fb0f698f9d671f2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d9a1233b1a6412b8fb0f698f9d671f2"}}, "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"}]}