IntroductionInflammatory bowel disease (IBD) is characterized by chronic inflammation in the gastrointestinal tract, presumably due to dysregulation of the microbial flora in genetically susceptible individuals. Recent large‐scale genome‐wide association studies (GWASs) in populations of the European ancestry advanced our understanding of IBD‐related genetics by identifying over 241 susceptibility loci for IBD. However, the known variants only account for a fraction of IBD heritability. Despite differences in the clinical characteristics of IBD across different ethnic groups, there are limited number of studies in non‐European populations. Several GWAS on Crohn's disease (CD) and ulcerative colitis (UC) performed in Asian populations reported a total of five Asian‐specific loci. Our recent largest‐to‐date Asian‐specific GWAS of IBD provided suggestive evidence of association signals in the cyclin‐dependent kinase inhibitor 2A/B (CDKN2A/CDKN2B) locus.Polymorphisms in the CDKN2A/CDKN2B region at 9p21 are associated with various types of cancer and heart and inflammatory diseases. The CDKN2A/CDKN2B locus contains three tumor suppressor genes, p14ARF, p16INK4A, and p15INK4B, all of which are involved in the retinoblastoma and p53 pathway. Multiple studies found disruption of the CDKN2A/CDKN2B genes in malignant tumors, implying their function in cell‐cycle regulation. Recent GWAS identified additional risk variants in the CDKN2B antisense RNA 1 (CDKN2B‐AS1, also called
Journal of Gastroenterology and Hepatology – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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