Xu J R, Yang Y, Liu X M, Wang Y J
Key Laboratory of the Ministry of Education for Conservation and Utilization of Special Biological Resources, Ningxia, China.
Genet Mol Res. 2014 Nov 14;13(4):9588-98. doi: 10.4238/2014.November.14.2.
We investigated the association between vitamin D receptor (VDR) and susceptibility to type 2 diabetes mellitus (T2DM). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was conducted to examine single nucleotide polymorphisms (SNPs) of the rs1544410 (BsmI, G>A), rs757343 (Tru9I, G>A), rs731236 (TaqI, T>C), and rs739837 (BglI, G>T) loci of the VDR gene in 334 healthy individuals (Hui 115, Han 219) and 355 T2DM patients (Hui 154, Han 201) living in the Ningxia Hui Autonomous Region of China. The genotypic frequency and allelic frequency distributions in the VDR gene showed no significant difference between T2DM patients and controls in the Chinese Hui population. However, statistical differences in the genotypic frequency at rs739837 and in the genotypic and allelic frequencies at rs1544410 were observed between T2DM patients and controls in the Chinese Han population (P < 0.05). Patient-control haplotype analyses using the SHEsis online haplotype analysis software showed that the G allele frequency of rs1544410 in the T2DM group was higher than that in the control group [odds ratio (OR) = 1.738, 95% confidence interval (CI) = 1.055-2.865], suggesting that the G allele is a risk factor of T2DM in the Chinese Han population. The frequency of haplotype GGCT between cases and controls was significantly different in both Chinese Hui [OR (95%CI) = 4.714 (1.04-21.36)] and Han populations [OR (95%CI) = 1.723 (1.03-2.883)] (P < 0.05), implying that the haplotype GGCT of the VDR gene is associated with susceptibility to T2DM in these ethnicities.
我们研究了维生素D受体（VDR）与2型糖尿病（T2DM）易感性之间的关联。对居住在中国宁夏回族自治区的334名健康个体（回族115名，汉族219名）和355名T2DM患者（回族154名，汉族201名）进行聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析，以检测VDR基因rs1544410（BsmI，G>A）、rs757343（Tru9I，G>A）、rs731236（TaqI，T>C）和rs739837（BglI，G>T）位点的单核苷酸多态性（SNP）。VDR基因的基因型频率和等位基因频率分布在中国回族人群的T2DM患者和对照组之间无显著差异。然而，在中国汉族人群的T2DM患者和对照组之间，观察到rs739837基因型频率以及rs1544410基因型和等位基因频率存在统计学差异（P<0.05）。使用SHEsis在线单倍型分析软件进行的病例-对照单倍型分析表明，T2DM组中rs1544410的G等位基因频率高于对照组[比值比（OR）=1.738，95%置信区间（CI）=1.055-2.865]，表明G等位基因是中国汉族人群T2DM的一个危险因素。病例与对照之间单倍型GGCT的频率在中国回族[OR（95%CI）=4.714（1.04-21.36）]和汉族人群[OR（95%CI）=1.723（1.03-2.883）]中均有显著差异（P<0.05），这意味着VDR基因的单倍型GGCT与这些民族的T2DM易感性相关。
