Candidate Genes Study Of Ulcerative Colitis In Chinese Han Population

Candidate genes study of ulcerative colitis in Chinese Han populationOBJECTIVES:Ulcerative colitis(UC) is the chronic inflammation of colon and with Crohn's disease(CD) are two main types of inflammatory bowel disease(IBD).Evidence shows that genetic susceptibility plays an important role in the pathogenesis of UC.Recent genome-wide association study found some new susceptible genes for UC and had been replicated consistently in different cohort.However,these studies are limited to Caucasian population.The genetic background of UC in Chinese population is unknown.Our objective was to explore the association of newly identified candidate genes including IL10,IL2,IL21, MYO9B,ECM1,MST1 and IL23R with UC patients in Chinese Han population.To further investigate the genotype-phenotype relationship in UC patients.METHODS:245 UC patients and 300 healthy controls of Chinese Han descent were included in the case-control study.In total,twenty-seven tag SNPs of the seven genes were genotyped by TaqMan^@ genotyping method.Data were analyzed using UNPHASED3.0.12 and Haploview4.0 software.RESULTS:A highly significant association between IL2-IL21 locus and UC was found.SNP rs2069762(P=7.0×10^-4,OR=1.54,95%CI 1.20-1.99) in IL2 and rs2055979(P=1.2×10-3, OR=1.50,95%CI 1.17-1.92) in IL21 were two variants conferring to disease risk.Two risk haplotypes rs2069776(T)-rs2069772(T)-rs2069762(C)(P=1.2×10-3,OR=1.51) and rs2221903(T)-rs2055979(A)(P=9.0×10^-4,OR=1.50) in IL2-IL21 locus were found.SNP rsl7375018 in IL23R(P=5.6×10^-4 were strongly associated with the phenotype of UC.No evidence of positive association for IL10,MYO9B,MST1 and ECM1 genes with UC was found in Chinese population.CONCLUSIONS:We confirmed the association of IL2-IL21 locus with UC in a Chinese UC cohort.This extends the findings of Europe and North America study,providing the evidence that IL2-IL21 is a common susceptible locus between different ethnics.This study also showed an association between IL23R and the phenotype of UC.