IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis.

摘要: Inflammatory bowel disease (IBD) refers to complex chronic relapsing autoimmune disorders of the gastrointestinal tract that have been traditionally classified into Crohn (CD) and ulcerative colitis (UC). We previously reported genetic variation within a 250-kb haplotype (IBD5) in 5q31 cytokine gene cluster confers susceptibility CD Canadian population. In current study, we first replicated this association by examining 368 German trios with demonstrating, transmission/disequilibrium testing (TDT), same is associated (χ2=5.97; P=.007). Our original study focused on role IBD5 CD; next explored potential contribution locus UC 187 trios. Given TDT results present cohort UC, may also act as for (χ2=8.10; P=.002). then examined locus-locus interactions between CARD15, elsewhere confer risk exclusively CD. indicate two loci independently but these behave an epistatic fashion promote development UC. Moreover, was not particular clinical manifestations upon phenotypic stratification Taken together, our suggest general factor IBD, such CARD15 modifying characteristics disease.