摘要
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(χ~2=3.967,P=0.046)。BsmⅠ、TaqⅠ和ApaⅠ位点基因之间存在连锁不平衡。BsmⅠ与TaqⅠ的连锁不平衡系数(D’)=1.000,相关系数(r^2)=0.741;BsmⅠ与ApaⅠ的D’=1.000,r^2=0.082;TaqⅠ与ApaⅠ的D’=0.829,r^2=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。
Objective To assess the influence of vitamin D receptor(VDR)gene BsmⅠ,FokⅠ,TaqⅠ and ApaⅠ polymorphisms on the response to antiviral therapy in patients with chronic hepatitis C(CHC).MethodsThere were total 124 patients with CHC treated with pegylated interferon plus ribavirin.VDRgene BsmⅠ,FokⅠ,TaqⅠ and ApaⅠ polymorphisms 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 of VDR genotype met Hardy-Weinberg equilibrium(all P0.05).There were no significant differences in VDR FokⅠ,TaqⅠ,ApaⅠ allele and genotype frequencies between SVR and non-SVR patients(all P0.05).The BsmⅠ(GA)genotype was significant higher in the patients with SVR compared to those with nonSVR(χ~2=3.967,P=0.046).Three SNPs at VDR gene(BsmⅠ,TaqⅠ and ApaⅠ)were in strong linkage disequilibrium.Linkage disequilibrium coefficient(D')between BsmⅠ and TaqⅠ was 1.000 and the correlation coefficient(r^2)was 0.741.D'between BsmⅠ and ApaⅠ was 1.000 and r^2 was 0.082.D'between TaqⅠ and ApaⅠ was 0.829 and r^2 was 0.076.No relation existed between haplotypes and response to therapy(P0.05).Conclusion Vitamin D receptor gene BsmⅠ polymorphism may be associated with the therapeutic response to antiviral therapy with pegylated interferon plus ribavirin in chronic hepatitis C patients.
出处
《四川大学学报(医学版)》
CAS
CSCD
北大核心
2016年第2期227-231,共5页
Journal of Sichuan University(Medical Sciences)
基金
四川省卫生和计划生育委员会科研课题(No.150122)资助