维生素D受体基因多态性与新疆哈萨克族结核病的关联研究

The Association of Two Polymorphisms of the Vitamin D Receptor Gene with the Susceptibility to Tuberculosis in Hazakhs of Xinjiang

为研究维生素D受体(VDR)基因两种多态现象与新疆哈萨克族(哈族)结核病易感性的相关性。采用PCR-RFLP分析的方法分别对213例新疆哈萨克族人群活动性结核病患者及211例有结核分枝杆菌接触史的新疆哈萨克族人群健康对照者进行VDR基因两种多态性(FokI、TaqI)基因分型,探讨它们与新疆哈萨克族结核病易感性的关系。结果显示在病例组中,FF、Ff与ff 3种基因型分别为72例(33.8%)、96例(45.1%)、45例(21.1%),对照组对应基因型为101例(47.9%)、88例(41.7%)、22例(10.4%),病例组ff基因型频率高于对照组((χ2=12.615,P<0.05);等位基因f组间分布有统计学意义(χ2=13.8,P<0.05)。病例组中TT、Ttt、t 3种基因型分别为191例(89.7%)、19例(8.9%)、3例(1.4%);对照组的相应基因型为183例(86.7%)、23例(10.9%)、5例(2.4%),组间基因型分布差异无统计学意义(χ2=0.577,P>0.05)。因此可知,VDR基因FokI多态性与新疆哈萨克族人群结核病易感性有关联,与TaqI多态性无关联;等位基因f可能是新疆哈萨克族人群结核病的易感基因;FokI与TaqI两位点之间不存在连锁不平衡。

To investigate the relationship between FokI and TaqI polymorphisms of the VDR gene and the susceptibility of tuberculosis in Hazakhs of Xinjiang.Two polymorphisms of the VDR gene were typed by PCR-RFLP among 213 patients and 211 healthy controls who had been sensitized to tuberculosis.The relationship between two polymorphisms and the susceptibility of TB were studied,and cases were grouped according to the genotypes.The results showed that the genotype FF,Ff,ff were observed in 72,96 and 45 cases among tuberculosis group while in 101,88 and 22 cases among control group.A significant increase of VDR genotype ff was observed in the TB patients compared to controls（χ^2=12.615,P〈0.05,OR=2.869）.The allele frequencies of ＂f＂were statistic significances in tuberculosis group compared with control group（χ^2=13.8,P〈0.01,OR=1.703）.The genotype of TT were in 191 cases,Tt 19,tt 3 cases among patients while TT in 183 cases,Tt 23,tt 5 cases among controls.No significant difference in these genotype frequencies was observed between the groups（χ^2=0.577,P〉0.05,OR=0.575）.The FokI polymorphism of VDR gene might be associated with TB in Hazakhs of Xinjiang,the allele frequencies of ＂f＂may be a risk factor for the tuberculosis of Kazakans in Xinjiang;But no evidences supported that the TaqI polymorphism were associated with TB in Hazakhs of Xinjiang.The two polymorphisms didn＇ t show linkage disequilibrium.