[en] Genome-wide association studies (GWAS) have identified hundreds of loci associated with Crohns disease (CD), however, as with all complex diseases, deriving pathogenic mechanisms from these non-coding GWAS discoveries has been challenging. To complement GWAS and better define actionable biological targets, we analysed sequenced data from more than 30,000 CD patients and 80,000 population controls. We observe rare coding variants in established CD susceptibility genes as well as ten genes where coding variation directly implicates the gene in disease risk for the first time.
Disciplines :
Genetics & genetic processes
Author, co-author :
International IBD Genetics Consortium
Rahmouni, Souad ; Université de Liège - ULiège > GIGA Medical Genomics - Unit of Animal Genomics
Georges, Michel ; Université de Liège - ULiège > Dpt. de gestion vétérinaire des Ressources Animales (DRA) > Génomique animale
LOUIS, Edouard ; Université de Liège - ULiège > GIGA > GIGA I3 - Translational gastroenterology ; Centre Hospitalier Universitaire de Liège - CHU > > Service de gastroentérologie, hépatologie, onco. digestive ; Université de Liège - ULiège > Département des sciences cliniques > Hépato-gastroentérologie
Language :
English
Title :
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility