title: Analysis of the association of single nucleotide polymorphisms of interleukin-23 receptor (IL-23R) and inflammatory bowel disease in a Chinese Han cohort.
abstract: Inflammatory bowel disease (IBD) is a chronic, complex genetic disease with rapidly increasing prevalence in China. The interactions of genetic, environmental, and microbial factors contribute to the development of IBD, however, the precise etiologies of IBD are not well understood yet. Interleukin-23 receptor (IL-23R) encodes a subunit of receptor for IL-23, which is an important proinflammatory cytokine. In this study, we investigated the relationship between the single nucleotide polymorphism (SNP) of IL-23R gene and IBD in Chinese Han population. We genotyped three nonsynonymous IL-23R SNPs with amino acid changes (rs11209026, p.Arg381Gln; rs41313262 p.Val362Ile and rs11465797 p.Thr175Asn) in 198 patients with IBD (124 UC and 74 CD) and 100 healthy controls. The prevalence of the A allele in IL-23R Arg381Gln of CD appeared less than controls, but it was not statistically significant (2.70% vs. 6.00%, p > 0.05). There was no statistical difference between UC and controls (5.65% vs. 6.00%, p = 0.91). The p.Val362Ile variant was present in 2.42% of UC patients, in 2.70% of CD patients, which was similar in the control (2.00%). There was no statistical difference among these three groups. We did not detect Thr175Asn (rs11465797 c.524 C>A) in all the three groups. In conclusion, our study demonstrated that the p.Val362Ile and Arg381Gln were not associated with susceptibility to IBD in Chinese Han population.
authors.affiliation: Department of Gastroenterology, Suzhou Municipal Hospital (Eastern), Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, China.
authors.forename: Zhong-Kai
authors.initials: ZK
authors.lastname: Lu
authors.affiliation: Department of Gastroenterology, Suzhou Municipal Hospital (Eastern), Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, China.
authors.forename: Zhi-Rong
authors.initials: ZR
authors.lastname: Chen
authors.affiliation: Department of Gastroenterology, Suzhou Municipal Hospital (Eastern), Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, China.
authors.forename: Jun-Yi
authors.initials: JY
authors.lastname: Zhu
authors.affiliation: Department of Gastroenterology, Suzhou Municipal Hospital (Eastern), Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, China.
authors.forename: Ya
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Department of Gastroenterology, Suzhou Municipal Hospital (Eastern), Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, China.
authors.forename: Xian
authors.initials: X
authors.lastname: Hua
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*
chemical_list: C515500:IL23R protein, human; D018123:Receptors, Interleukin
keywords: Crohn’s disease; Pathology Section; inflammatory bowel disease; single nucleotide polymorphisms; ulcerative colitis; interleukin-23 receptor