Les publications qui suivent sont des exemples de recherches rendues possibles grâce aux données de CanPath et de ses cohortes régionales.


150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility

Auteurs : Yeda Wu, Slavina B. Goleva, Lindsay B. Breidenbach, Minsoo Kim, Stuart MacGregor, Michael J. Gandal, Lea K. Davis, Naomi R. Wray

This study includes data from over 724,000 individuals, including data from 7,696 CARTaGENE participants. Researchers identified 150 genetic variants associated with diverticular disease (DivD) of the intestine. Their findings suggest that DivD may be linked to factors related to colon structure, gut motility, gastrointestinal mucus, and ionic balance. Notably, one of the identified genes is a target for a drug used to treat irritable bowel syndrome (IBS), highlighting a potential connection between these two gastrointestinal conditions.

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