宁夏汉族人群VDR基因4个SNPs位点基因多态性与2型糖尿病的关联性分析 

目的：探讨在宁夏地区汉族人群中维生素D受体（VDR）基因4个SNPs位点基因态性与2型糖尿病（T2DM）的关联性，旨在为T2DM的早期预防提供理论依据。方法：采用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法对宁夏汉族201例T2DM患者及210例健康对照个体VDR基因rs1544410（G>A）、rs757343（G>A）、rs731236（T>C）和rs739837（G>T）共4个SNPs位点的多态性进行检测，病例-对照组间基因型和等位基因频数的差
异比较采用χ2检验，单倍型分析采用SHEsis在线分析软件。结果：T2DM组和对照组间，rs1544410、rs757343位点基因型频数分布差异具有统计学意义（P<0.05）；rs1544410位点等位基因频数分布差异有统计学意义（P<0.05），等位基因G在T2DM组的频数（93.5%）高于对照组（89.3%），OR ［95%CI］为1.738 ［1.055~2.865］；4个位点共检出16种单倍型，单倍型GGCT在宁夏汉族T2DM患者中的频数（10.0%）高于对照组（6.1%），组间比较差异有统计学意义（P<0.05），且OR ［95%CI］为1.723 ［1.03~2.883］。结论：在宁
夏汉族人群中，VDR基因rs1544410位点等位基因G及单倍型GGCT可增加患T2DM的风险。
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Relevance analysis on polymorphisms of four SNPs of VDR gene and type 2 diabetes mellitus in Ningxia Han population

Objective To investigate the correlation between 4 single nucleotide polymorphisms(SNPs) of vitamin D receptor(VDR) gene and type 2 diabetes mellitus(T2DM) in Ningxia Han population and to provide theoretical basis for T2DM prevention.Methods Polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) method was carried out to examine the SNPs at rs1544410(G>A),rs757343(G>A),rs731236(T>C) and rs739837(G>T) sites of VDR gene in 201 T2DM patients(T2DM group) and 210 healthy individuals(control group) in Ningxia Han population.The χ2 test was used to compare the allelic frequencies and genotypic frequencies between two groups.The SHEsis online haplotype analysis software was applied.Results The genotypic frequencies of rs1544410 and rs757343 had significant differences between T2DM group and control group(P<0.05).The frequency of allele G was higher in T2DM group(93.5%) than that in control group(89.3%),and the difference between two groups had statistically significant difference(P<0.05).The OR value was 1.738 1.055-2.865].There were 16 haplotyes in 4 SNPs in all and the frequency of haplotype GGCT had significant difference between T2DM group(10.0%) and control group(6.1%)(P<0.05),with OR = 1.723 1.03-2.883].Conclusion The allele G of rs1544410 and the haplotype GGCT of VDR gene may be associated with T2DM susceptibility in Ningxia Han population.