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目的研究我国人群IL-23R基因Val362Ile和Thrl75Asn单核苷酸多态性,分析其与炎症性肠病(IBD)的相关性。方法采用PCR扩增和测序的方法对198例IBD患者和100例健康对照者IL-23R基因Val362Ile和Thrl75Asn多态性进行分析,计算其等位基因的表现频率,结合临床资料分析其多态性与IBD的相关性。结果 (1)IBD中克罗恩病患者IL-23R Val362Ile等位基因A的表现频率为2.7%,溃疡性结肠炎组为2.4%,对照组为2.0%,3组无明显统计学差异(P>0.05)。(2)IBD及对照组中均无Thrl75Asn等位基因A表现,相应位点均表现为C。结论我国人群IL-23R Val362Ile单核苷酸多态性与IBD无明显相关性,未发现Thrl75Asn等位基因A。
Objective To study the single nucleotide polymorphisms of Val362Ile and Thrl75Asn in IL-23R gene of Chinese population and to analyze their association with inflammatory bowel disease (IBD). Methods The polymorphisms of Val362Ile and Thrl75Asn in IL-23R gene of 198 patients with IBD and 100 healthy controls were analyzed by PCR amplification and sequencing. The frequency of allele expression was calculated, and the clinical data were used to analyze the polymorphism Correlation with IBD. Results (1) The frequency of IL-23R Val362Ile allele A was 2.7% in Crohn’s disease patients in IBD patients, 2.4% in ulcerative colitis patients and 2.0% in control patients. There was no significant difference between the three groups (P > 0.05). (2) There was no Thrl75Asn allele A in both IBD and control groups, and all the corresponding sites showed C. Conclusion There is no significant correlation between IL-23R Val362Ile single nucleotide polymorphism and IBD in Chinese population, and Thrl75Asn allele A was not found.