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Pubmed-Unravelling the genetics of irritable bowel syndrome


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Nat Rev Gastroenterol Hepatol. 2021 Nov 15. doi: 10.1038/s41575-021-00556-9. Online ahead of print.

A large genome-wide association study (GWAS) of people with irritable bowel syndrome (IBS) has identified several genetic susceptibility loci and indicated shared genetic pathways with mood and anxiety disorders. The findings, published in Nature Genetics, strengthen the links between the gut and the brain in IBS.

IBS is a common condition, but so far understanding of the genetics for this condition is limited. As such, Eijsbouts et al. aimed to identify the genetic risk factors for IBS through an analysis of a large cohort. A digestive health questionnaire (DHQ) was designed and sent to UK Biobank (UKB) participants. The DHQ included validated instruments for IBS diagnosis (including Rome III symptom criteria) and identified 40,548 UKB participants of European ancestry who met the criteria for IBS. A GWAS meta-analysis was then conducted with 53,400 cases (including those identified in the UKB cohort and cases from the Bellygenes initiative) and 433,201 controls, and significant associations were replicated in a 23andMe panel including 205,252 self-reported cases and 1,384,055 controls.

PMID:34782784 | DOI:10.1038/s41575-021-00556-9

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