Association of VDR polymorphisms with type 2 diabetes mellitus in Chinese Han and Hui populations.
Association of VDR polymorphisms with type 2 diabetes mellitus in Chinese Han and Hui populations.
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DOI：
10.4238/2014.november.14.2
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发表时间：
2014-11
期刊：
影响因子：
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通讯作者：
J. Xu;Y. Yang;X. Liu;Y. J. Wang
中科院分区：
文献类型：
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作者：
J. Xu;Y. Yang;X. Liu;Y. J. Wang
我们研究了维生素D受体（VDR）与2型糖尿病（T2 DM）易感性的关系。限制性片段长度多态性进行PCR-RFLP分析以检测rs 1544410的单核苷酸多态性（SNP）。（BsmI，G>A），rs757343（Tru9I，G>A），rs731236（TaqI，T>C）和rs739837目的：检测宁夏回族自治区334例健康人（回族115例，汉族219例）和355例2型糖尿病患者（回族154例，汉族201例）VDR基因（BglI，G>T）位点的多态性。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中T2 DM患者和对照组之间无显著差异。中国汉族人群中T2 DM组与对照组rs739837基因型频率、rs 1544410基因型频率和等位基因频率差异有统计学意义（P < 0.05）。采用SHEsis在线单倍型分析软件进行患者-对照单倍型分析，结果显示rs 1544410基因G等位基因在T2 DM组中的频率高于对照组[OR = 1.738，95% CI = 1.055-2.865]，提示G等位基因是中国汉族人群T2 DM的危险因素。在回族和汉族人群中，VDR基因GGCT单倍型的出现频率[OR（95%CI）= 4.714（1.04-21.36）]和[OR（95%CI）= 1.723（1.03-2.883）]均存在显著性差异（P < 0.05），提示VDR基因GGCT单倍型与回族和汉族人群的T2 DM易感性相关。
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.