Analysis of sequencing data of 320k individuals (75k cases and 245k controls) shows heterozygous carriers of cystic fibrosis mutations are protected from inflammatory bowel disease. The protection mechanism could be due to an altered gut mucosal barrier that resists penetration by bacterial or other toxins. Prior animal studies have indeed shown that heterozygous state of cystic fibrosis mutation protects against cholera and typhoid bacterial toxins. It's amazing to see validation using human genetics with IBD as outcome. This was one of the ASHG abstracts this year that stood out for me. Nice to see it in preprint.
Yu et al. medRxiv (from International IBD consortium)
https://t.co/gMBNZhlhYe
Fresh preprint! Leveraging the largest Inflammatory Bowel Disease (IBD) sequencing dataset to date, we established a protective role of Cystic Fibrosis-risk variants against IBD. https://t.co/ltx0Yoh3KO
Thrilled to contribute to this collaborative effort across the International Inflammatory Bowel Disease Consortium and grateful to be in the position to analyze these data!