Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
Department of Psychiatry, University of Cambridge, Cambridge, UK.
Nat Commun. 2021 Feb 19;12(1):1146. doi: 10.1038/s41467-021-21280-7.
Genetic factors are recognized to contribute to peptic ulcer disease (PUD) and other gastrointestinal diseases, such as gastro-oesophageal reflux disease (GORD), irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD). Here, genome-wide association study (GWAS) analyses based on 456,327 UK Biobank (UKB) individuals identify 8 independent and significant loci for PUD at, or near, genes MUC1, MUC6, FUT2, PSCA, ABO, CDX2, GAST and CCKBR. There are previously established roles in susceptibility to Helicobacter pylori infection, response to counteract infection-related damage, gastric acid secretion or gastrointestinal motility for these genes. Only two associations have been previously reported for duodenal ulcer, here replicated trans-ancestrally. The results highlight the role of host genetic susceptibility to infection. Post-GWAS analyses for PUD, GORD, IBS and IBD add insights into relationships between these gastrointestinal diseases and their relationships with depression, a commonly comorbid disorder.
遗传因素被认为与消化性溃疡病(PUD)和其他胃肠道疾病有关,如胃食管反流病(GORD)、肠易激综合征(IBS)和炎症性肠病(IBD)。在这里,基于 456327 名英国生物库(UKB)个体的全基因组关联研究(GWAS)分析确定了 8 个与 PUD 相关的独立且显著的基因座,这些基因座位于或靠近 MUC1、MUC6、FUT2、PSCA、ABO、CDX2、GAST 和 CCKBR 基因附近。这些基因在易感性、对抗感染相关损伤的反应、胃酸分泌或胃肠道动力方面都有先前确立的作用。以前只报道过两个与十二指肠溃疡相关的关联,在这里被跨祖先复制。这些结果强调了宿主对感染的遗传易感性的作用。对 PUD、GORD、IBS 和 IBD 的后 GWAS 分析增加了对这些胃肠道疾病之间的关系及其与抑郁症的关系的认识,抑郁症是一种常见的共病障碍。