[Association of interleukin-23 receptor gene polymorphisms with susceptibility and phenotypes of inflammatory bowel diseases in Jiangsu Han population].

OBJECTIVE: To investigate the possible association of interleukin-23 receptor (IL-23R) polymorphisms with the susceptibility and phenotype of inflammatory bowel diseases (IBD) in Jiangsu Han population. METHODS: We genotyped 178 IBD patients including 135 patients with ulcerative colitis (UC), 43 patients with Crohn's disease (CD), and 134 healthy controls for rs11805303, rs1343151, rs11465804, rs11209032, rs17375018, rs11465788. RESULTS: Comparing with the controls (50.4%), there was a significant increase in the carriage of the T allele of rs11805303 in UC (60.4%)(P = 0.020). In genotype-phenotype correlation of rs17375018 in UC, clinical severity (UCDAI) was associated with the prevalence of the G allele showed a trend to mild activity. Genotype polymorphisms of rs17375018A was observed more in younger than 25 in the genotype-phenotype correlation in CD (41.7% vs 22.0%, P = 0.050, OR = 2.532, 95%CI 0.988 - 6.494), while rs11805303 was associated with age at diagnose and disease lesion (P = 0.039 and 0.044). The risk of extra intestinal manifestation in rs17375018A allele carriers was lower (23.1% vs 46.7%, P = 0.040, OR = 2.917, 95%CI 1.027 - 8.283). CONCLUSIONS: We confirmed the susceptibility of rs11805303 polymorphisms with UC and first demonstrated the genotype-phenotype correlation of rs11805303, rs17375018 with UC, CD in Jiangsu Han population.

[Toll-like receptor gene polymorphisms and susceptibility to inflammatory bowel disease in Chinese Han and Caucasian populations].

OBJECTIVE: To explore the distribution of Toll-like receptors gene polymorphisms in inflammatory bowel disease (IBD) in Chinese Han patients and Caucasians. METHODS: The toll-like receptor 2 (TLR2) genes Arg677Trp and Arg753Glu, TLR4 genes Asp299Gly and Thr399Ile, and TLR9 gene 1237T/C polymorphisms were genotypes in 113 patients with IBD and 120 age and gender-matched healthy controls by the analyses of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). A meta-analysis was performed to test whether TLR4 Asp299Gly and Thr399Ile polymorphisms were associated with ulcerative colitis (UC) or Crohn's disease (CD) susceptibility and whether 299Gly carriage was associated with phenotypes of CD patients in the Caucasian population. RESULTS: We found two carriers of TLR9 1237C in UC patients, one carrier in CD patients and one in healthy controls respectively (CD: P = 0.361; UC: P = 0.569). There was no statistically significant difference in both allelic and genotypic frequencies. The mutant genotypes of TLR2 gene Arg677Trp and Arg753Glu, TLR4 gene Asp299Gly and Thr399Ile were not found in either the IBD patients or the healthy controls. The TLR4 299G allele showed a significant association with CD and UC in Caucasian population (OR = 1.29, 95%CI: 1.08 - 1.54, P = 0.004 and OR = 1.28, 95%CI: 1.08 - 1.51, P = 0.004 respectively). Similar association was detected between T399I polymorphism and susceptibility to IBD (OR = 1.37, 95%CI: 1.12 - 1.68, P = 0.002 and OR = 1.46, 95%CI: 1.13 - 1.88, P = 0.003 respectively). However, no significant association was identified between CD phenotypes and 299Gly carriage. CONCLUSION: TLR2 genes Arg677Trp and Arg753Glu, TLR4 genes Asp299Gly and Thr399Ile and TLR9 gene 1237T/C polymorphisms are not associated with IBD in Chinese Han patients. In Caucasians, both TLR4 299G and 399I confer a significant risk for developing CD and UC. The contribution of genetic determinants may differ significantly between ethnicities.