江苏地区汉族人群CTLA-4 rs4675369基因多态性与原发性胆汁性肝硬化的相关性

Association of CTLA-4 rs4675369 gene polymorphism with primary biliary cirrhosis in the Han population of Jiangsu region

目的观察细胞毒性T淋巴细胞相关抗原-4（CTLA-4）rs4675369位点基因多态性与原发性胆汁性肝硬化（PBC）的关系。方法用分子量阵列技术对710例PBC患者和743例健康对照者CTLA-4 rs4675369位点进行多态性检测,分析两组人群中基因型及等位基因频率的分布情况,明确该基因位点是否为PBC易感位点。结果 PBC组GG基因型和G等位基因频率分别为28.3%和51.4%,均高于对照组的21.7%和46.4%,且差异均有统计学意义（P均〈0.05）。GG基因型比值比（OR）为1.43（95%CI：1.13-1.81）,经年龄、性别因素校正后为1.43（95%CI：1.12-1.82）。结论江苏地区汉族人群CTLA-4rs4675369位点多态性与PBC存在相关性。

Objective To investigate the correlation of cytotoxic T lymphocyte-associated antigen-4（ CTLA-4） rs4675369 gene polymorphism with primary biliary cirrhosis（ PBC）. Methods The CTLA-4 rs4675369 single nucleotide polymorphism from 710 PBC patients and 743 healthy controls was determined by the molecular array technology. Then,the distribution of genotype and allele frequencies in two groups were analyzed to identify whether rs4675369 was the susceptible locus of PBC. Results The GG genotype and G allele frequencies in PBC group（ 28. 3% and 51. 4%） were significantly higher than those in healthy controls（ 21. 7% and 46. 4%）（ P〈0. 05）. The oods ratio（ OR） for GC genotype was 1. 43（ 95% CI： 1. 13-1. 81）,and 1. 43（ 95% CI： 1. 12-1. 82） after adjusting age and gender. Conclusion CTLA-4 rs4675369 gene polymorphism is associated with the susceptibility of PBC in the Han population of Jiangsu region.