新疆维吾尔族和汉族育龄女性维生素D受体基因多态性分布比较研究

Comparison of the polymorphism of vitamin D receptor gene between Uygur and Han reproductive aged women

目的探讨新疆地区维吾尔族（维族）、汉族育龄女性维生素D受体（vitamin D receptor,VDR）基因4个单核苷酸多态性的基因型和等位基因频率分布特点及2个民族间差异。方法对新疆地区无亲缘关系、年龄20~40岁305例健康汉族妇女和216例健康维族妇女进行VDR基因BsmⅠ（rs1544410）、CDX2（rs11568820）、TaqⅠ（rs731236）、Tru9Ⅰ（rs757343）位点多态性检测。结果维、汉族育龄女性VDR基因BsmⅠ（rs1544410）、CDX2（rs11568820）、TaqⅠ（rs731236）、Tru9Ⅰ（rs757343）位点基因型及等位基因频率分布均符合Hardy-Weinberg平衡定律;维族育龄女性VDR基因BsmⅠ（rs1544410）基因型（BB为4.6%、Bb为31.0%、bb为64.4%）和等位基因频率（B为20.1%,b为79.9%）、CDX2（rs11568820）基因型频率（AA为39.8%、AG为17.6%、GG为42.6%）、TaqⅠ（rs731236）等位基因频率（T为86.1%、t为13.9%）分布与汉族（BB为0、Bb为8.9%、bb为91.1%,B为4.4%、b为95.6%,AA为30.8%、AG为47.5%、GG为21.6%,T为90.5%、t为9.5%）比较差异均有统计学意义（P〈0.05）。结论新疆地区维、汉族育龄女性VDR SNPs基因型和等位基因频率分布有种族差异性。

Objective To investigate the allele and genotype frequency distribution of four single nucleotide polymorphisms（SNPs）in vitamin D receptor（VDR）gene and the difference between Uygur and Han reproductive aged women in Xinjiang.Methods The gene polymorphisms of BsmⅠ（rs1544410）,CDX2（rs11568820）,TaqⅠ（rs731236）and Tru9Ⅰ（rs757343）genotypes of VDR were determined in 216 Uygur and 305 Han unrelated healthy women aged from 20 to 40years.Results Hardy-Weinbergequilibrium was evident for the alleles and genotype frequencies of BsmⅠ（rs1544410）,CDX2（rs11568820）,TaqⅠ（rs731236）,Tru9Ⅰ（rs757343）in Uygur and Han reproductive aged women.In Uygur reproductive women,the distribution of genotype and allele frequency of BsmⅠ（rs1544410）（BB：4.6%,Bb：31.0%,bb：64.4%,B：20.1%,b：79.9%）,CDX2（rs11568820）（AA：39.8%,AG：17.6%,GG：42.6%）,and the allele frequencies of TaqⅠ（rs731236）（T：86.1%,t：13.9%）were significantly different from those in Han reproductive women（BB：0,Bb：8.9%,bb：91.1%,B：4.4%,b：95.6%,AA：30.8%,AG：47.5%,GG：21.6%,T：90.5%,t：9.5%）（P〈0.05）.Conclusion Allele and genotype frequency distribution of VDR gene SNPs have racial differences between Han and Uygur reproductive aged women in Xinjiang.