期刊
JOURNAL OF CLINICAL GASTROENTEROLOGY
卷 43, 期 5, 页码 444-447出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MCG.0b013e318168bdf0
关键词
inflammatory bowel disease; IL-23 receptor; ATG16L1; single nucleotide polymorphisms; association; Crohn's disease
资金
- Genome Canada
- The Canadian Genetics Diseases Network
- Crohn's and Colitis Foundation of Canada
- NATIONAL CANCER INSTITUTE [P30CA016672] Funding Source: NIH RePORTER
Goals: To establish the relevance of variants in the IL-23R and A TG16L1 genes in inflammatory bowel disease (IBD). Aim: recent genome wide association studies have identified variants in the IL-23R and ATG16L1 genes, which modulate susceptibility to Crohn's disease (CD). Methods: We genotyped 1028 IBD patients, including 443 CD and 347 ulcerative colitis (UC) non-Jewish cases, 238 (183 CD and 55 UC) Jewish cases, and 1005 ethnically matched control subjects for 18 and 11 variants, respectively, in the IL-23R and ATG16L1 genes, including the IL-23R (R381Q) and ATG16L1 (T216A) variants, previously associated with CD. Results: Single nucleotide polymorphisms within each of 3 haplotype blocks across the IL-23R gene were associated with an increased risk of CD. Notably, the minor allele of the IL-23R R381Q variant was present in 2.9% of cases and 6.0% controls (P = 0.0001, odds ratio = 0.48, 95% confidence interval 0.33-0.69). Homozygosity for the minor (T) allele of the ATG16L1 T216A polymorphism was strongly protective for CD (P = 0.0001, odds ratio = 0.51, 95% confidence interval 0.38-0.68). No phenotypic associations were detected and no interactions between the genes to increase disease risk were established. Conclusions: We confirm the association of CD with variants in the IL-23R and ATG16L1 genes and the more modest association of the IL-23R R381Q variant with UC. Our results also suggest that these variants act independently of one another to influence risk and pathogenesis of IBD.
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