Nature子刊:消化性溃疡的遗传因素,及其与抑郁症的关联
  • 对英国生物库45万余人进行全基因组关联研究(GWAS)分析,鉴定出35个与不同消化系统疾病相关的独立SNP(含19个新的SNP);
  • 其中8个SNP与消化性溃疡相关,位于/邻近MUC1、MUC6、FUT2、PSCA、ABO、CDX2、GAST和CCKBR基因,这些基因之前被发现在幽门螺杆菌感染、抵抗感染相关损伤和胃分泌中发挥作用;
  • 进一步分析凸显了神经系统和胃肠道之间的联系,孟德尔随机化分析提示胃肠道疾病和抑郁症可能存在双向因果关系,或多效性效应。
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mildbreeze
遗传因素被认为是导致消化性溃疡疾病(PUD)和其他胃肠道疾病的一个重要原因。近期发表于Nature Communications的研究,通过对英国生物库队列的大规模GWAS分析,鉴定出与PUD相关的8个遗传位点,揭示了PUD与其他胃肠道疾病(胃食管反流、肠易激综合征)之间的遗传相似性,并探究了胃肠道疾病与抑郁症之间的因果关系。
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GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression

消化性溃疡的GWAS分析显示其与幽门螺杆菌感染、其他胃肠道疾病及抑郁有关

10.1038/s41467-021-21280-7

02-19, Article

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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.

First Authors:
Yeda Wu

Correspondence Authors:
Yeda Wu,Naomi R Wray

All Authors:
Yeda Wu,Graham K Murray,Enda M Byrne,Julia Sidorenko,Peter M Visscher,Naomi R Wray

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