HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
- Department of Internal Medicine I
- Chair of Mucosal Immunology
- University of Exeter
- Royal Devon & Exeter NHS Foundation Trust
- Oxford University Hospitals NHS Foundation Trust
- Monash University
- King's College Hospital NHS Foundation Trust
- Royal Adelaide Hospital
- Careggi University Hospital
- Flinders University
- St. Vincent's Hospital Sydney
- University Hospitals of Derby and Burton NHS Foundation Trust
- Liverpool Heart and Chest Hospital NHS Foundation Trust
- University Hospitals Bristol and Weston NHS Foundation Trust
- University Hospital Southampton NHS Foundation Trust
- Karolinska Institutet
- University of Alberta
- University of Queensland
- Internal Medicine and Gastroenterology Unit
- Somerset NHS Foundation Trust
- Örebro University Hospital
- St. Mark's Hospital and Academic Institute
- Guy's and St Thomas' NHS Foundation Trust
- North Western Health Board Sligo General Hospital
- Rambam Medical Center
- University of Western Australia
- Cambridge University Hospitals NHS Foundation Trust
- Shaare Zedek Medical Center
- Barts Health NHS Trust
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- Chelsea and Westminster Hospital NHS Foundation Trust
- Basildon Hospital
- Imperial College Healthcare NHS Trust
- NHS Greater Glasgow and Clyde
- Lewisham and Greenwich NHS Trust
- Mount Sinai Hospital (Toronto)
- IRCCS Ente Ospedaliero specializzato in gastroenterologia Saverio De Bellis - Castellana Grotte (BA)
- Norfolk and Norwich University Hospitals NHS Foundation Trust
- University of Ioannina
- Queen Mary University of London
- Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Abstract
Pancreatitis occurs in approximately 4% of patients treated with the thiopurines azathioprine or mercaptopurine. Its development is unpredictable and almost always leads to drug withdrawal. We identified patients with inflammatory bowel disease (IBD) who had developed pancreatitis within 3 months of starting these drugs from 168 sites around the world. After detailed case adjudication, we performed a genome-wide association study on 172 cases and 2,035 controls with IBD. We identified strong evidence of association within the class II HLA region, with the most significant association identified at rs2647087 (odds ratio 2.59, 95% confidence interval 2.07-3.26, P = 2 × 10(-16)). We replicated these findings in an independent set of 78 cases and 472 controls with IBD matched for drug exposure. Fine mapping of the HLA region identified association with the HLA-DQA1*02:01-HLA-DRB1*07:01 haplotype. Patients heterozygous at rs2647087 have a 9% risk of developing pancreatitis after administration of a thiopurine, whereas homozygotes have a 17% risk.
Details
Original language | English |
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Pages (from-to) | 1131-4 |
Number of pages | 4 |
Journal | Nature genetics |
Volume | 46 |
Issue number | 10 |
Publication status | Published - Oct 2014 |
Peer-reviewed | Yes |
External IDs
PubMedCentral | PMC6379053 |
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Scopus | 84922070460 |
Keywords
Keywords
- Azathioprine/adverse effects, Gene Frequency, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Genotype, HLA-DQ alpha-Chains/chemistry, HLA-DRB1 Chains/chemistry, Haplotypes, Humans, Immunosuppressive Agents/adverse effects, Inflammatory Bowel Diseases/drug therapy, Mercaptopurine/adverse effects, Models, Molecular, Molecular Structure, Pancreatitis/chemically induced, Polymorphism, Single Nucleotide, Protein Binding, Protein Structure, Tertiary, Risk Factors