细胞因子基因多态性与中国人原发性胆汁性肝硬化的相关性

Genetic Association between Interleukins Gene Polymorphisms with Primary Biliary Cirrhosis in Chinese Population

目的探讨IL-1、IL-6、IL-10基因多态性与中国人原发性胆汁性肝硬化(PBC)发病的相关性。方法采用限制性片段长度多态性分析(PCR-RFLP)和序列特异性PCR(SSP)法,分析77例PBC患者及160例健康对照者外周血单核细胞基因组DNAIL-1(+3953)、IL-1受体拮抗剂(IL-1RN)、IL-6启动子(-174)、IL-10启动子(-592、-819、-1082)基因多态性,并进行对比分析。结果PBC组IL-1RN1熏1等位基因携带率明显高于对照组(90.9%vs79.4%熏P=0.026),IL-1RN1熏2等位基因携带率明显低于对照组(6.5%vs18.8%熏P=0.013),IL-1RN觹2等位基因携带率与对照组相比差异无显著性(P=0.06)。160例健康对照者IL-6-174等位基因全部为GG纯合子;PBC患者中有4例为GC杂合子,其余73例均为GG纯合子穴P=0.0036雪;C等位基因频率显著高于正常对照组(P=0.0038)。IL-1+3953及IL-10启动子-1082、-819和-592基因多态性与正常对照组差异无显著性。结论IL-1RN和IL-6-174基因多态性可能与中国人PBC的易感性相关,而IL-1(+3953)及IL-10启动子基因多态性与之不相关。

Objective To determine the relationship between polymorphisms in the genes encoding IL-1? IL-6? and IL-10 with primary biliary cirrhosis?(PBC?)in Chinese population. Methods Whole-blood sampleswere taken from 77 patients with PBC and 160 healthy controls. DNA was extracted and the polymorphisms at positions IL-1 +3 953? IL-1RN intron 2? IL-6 -174? and IL-10 -1 082? -819? and -592 were determined by using sequence-specific polymerase chain reaction?(SSP?)or polymerase chain reaction-restriction fragmentlength polymorphism?(PCR-RFLP?). Results The frequency of IL-1RN1?1 allele in PBC group was signi-ficantly higher than in control group?(90.9% vs 79.4%? P = 0.026?)? and the frequency of IL-1RN1?2 in PBC group was significantly lower than in control group?(6.5% vs 18.8%? P = 0.013?). There was no significant difference in the frequence of IL-1RN?2 allele between PBC group and control group?(P = 0.06?). Of the 77 patients with PBC? 4 patients were IL-6 -174GC? 73 were IL-6 174GG. All the 160 health controls are IL-6 -174GG?(P = 0.0036?). The frequence of IL-6 -174C allele in PBC group was significantly higher than that in control group?(P = 0.0038?). No significant differences of polymorphisms for IL-1 +3 953 and IL-10?(-1 082? -819 and -592?)were found between PBC group and control group. Conclusion The polymorphisms of IL-1RN and IL-6 -174G/C appear to be associated with PBC? and the polymorphisms of IL-1 +3 953 and IL-10 promoter gene are not associated with PBC in a Chinese population.