维生素D受体基因多态性与慢性丙型肝炎抗病毒疗效的相关性研究

目的探讨汉族人维生素D受体(vitamin D receptor，VDR)基因BsmⅠ、FokⅠ、TaqⅠ、ApaⅠ位点基因多态性与慢性丙型病毒性肝炎（简称丙肝）抗病毒治疗效果的相关性。方法应用聚合酶链反应-MassARRAY (PCR-MassARRAY)基因型分析技术检测VDR基因BsmⅠ、FokⅠ、TaqⅠ及ApaⅠ的多态性在71例获得持续性病毒学应答（SVR）患者（SVR组）及53例非SVR（non-SVR）患者（non-SVR组）中的分布，并进行基因型分析。结果 VDR基因（BsmⅠ、FokⅠ、TaqⅠ、ApaⅠ）频率分布符合Hardy-Weinberg平衡，具有群体代表性。其中FokⅠ、TaqⅠ以及ApaⅠ 的等位基因和基因型频率在两组患者间差异无统计学意义。BsmⅠ基因型频率在两组间分布差异有统计学意义，GA基因型在SVR组患者中频率更高（χ² =3.967， P=0.046）。BsmⅠ、TaqⅠ和ApaⅠ位点基因之间存在连锁不平衡。BsmⅠ、TaqⅠ的连锁不平衡系数(D’)=1.000，相关系数(r 2) =0.741；Bsm Ⅰ与ApaⅠ 的D’=1.000， r2=0.082；TaqⅠ与ApaⅠ 的D’=0.829，r2=0.076。各单倍型的组间差异无统计学意义。结论 VDR BsmⅠ基因突变可能与慢性丙肝抗病毒治疗效果相关。

英文摘要:

Objective To assess the influence of vitamin D receptor (VDR) geneBsmⅠ, FokⅠ,TaqⅠandApaⅠ polymorphisms on the response to antiviral therapy in patients with chronic hepatitis C (CHC). Methods There were total 124 patients with CHC treated with pegylated interferon plus ribavirin.VDRgeneBsmⅠ, FokⅠ,TaqⅠandApaⅠpolymorphisms were analyzed in 71 patients with sustained virological response (SVR) and 53 patients without SVR (non-SVR) by polymerase chain reaction-MassARRAY (PCR-MassARRAY). Results The distributions ofVDRgenotype met Hardy-Weinberg equilibrium (all P>0.05)．There were no significant differences inVDR FokⅠ,TaqⅠandApaⅠallele and genotype frequencies between SVR and non-SVR patients(all P>0.05)．TheBsmⅠ(GA) genotype was significant higher in the patients with SVR compared to those with non-SVR (χ² =3.967, P=0.046). Three SNPs atVDRgene (BsmⅠ, FokⅠ,TaqⅠandApaⅠ) were in strong linkage disequilibrium. Linkage disequilibrium coefficient (D’) betweenBsmⅠandTaqⅠwas 1.000 and the correlation coefficient (r² ) was 0.741. D’ betweenBsmⅠ andApaⅠwas 1.000 and r² was 0.082. D’ betweenTaqⅠ andApaⅠwas 0.829 and r² was 0.076. No relation existed between haplotypes and response to therapy ( P>0.05). Conclusion Vitamin D receptor geneBsmⅠ polymorphism may be associated with the therapeutic response to antiviral therapy with pegylated interferon plus ribavirin in chronic hepatitis C patients.

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