维吾尔族2型糖尿病与锌转运蛋白-8基因单核苷酸多态性及其交互作用的相关性分析

来自：中国糖尿病杂志编辑：苏银霞马艳姚华等|点击数：|2016-03-04

【摘要】目的 探讨SLC30A8的4个单核苷酸多态性(SNP)位点与维吾尔族T2DM的关联，以及SNP位点间交互作用对T2DM易感性的影响。方法选取维吾尔族T2DM患者（病例组）和健康体检者（对照组），各932名。通过体格及生化检查获得临床资料，并进行SLC30A8基因多态性检测。结果 SLC30A8基因的4个SNP中rs13266634基因型频率、等位基因频率分布在调整协变量前后，组间比较差异均有统计学意义（P＜0.05）；rs13266634的风险等位基因为C[P＜0.05，OR（95%CI）:1.186（1.031～1.364）]；SLC30A8基因模型分析显示，调整协变量后，rs13666334的加性模型有统计学意义[P＜0.05，OR(95%CI):0.841(0.722～0.980)]；rs3802177的显性基因模型有统计意义[P＜0.05，OR(95%CI)：0.621(0.338～0.995)]；rs3802177-rs13266634单倍型(T-T)有统计学意义[P＜0.05，OR（95%CI）：0.846(0.734～0.976)]；广义多因子降维法（GMDR）分析显示，各SNP位点间协变量调整前后均无交互作用(P＞0.05)。结论 SLC30A8基因rs13666334、rs3802177与维吾尔族T2DM的易感性有关，且rs13666334位点的突变呈保护作用，其风险等位基因C有累加性，rs3802177-rs13266634单倍型(T-T)可能是维吾尔族T2DM的保护因素之一。

【关键词】 维吾尔族；糖尿病，2型；SLC30A8；单核苷酸多态性；交互作用

Association between polymorphisms of SLC30A8 and their interaction and type 2 diabetes in Uyhgur nationality

【Abstract】 Objective To explore the relationship between 4 polymorphisms of SLC30A8 gene and type 2 diabetes mellitus (T2DM) in Xinjiang Uyhgur, and do further analysis on the impact of interaction of SLC30A8 gene polymorphism loci for T2DM susceptibility. Methods 932 patients with T2DM and 932 non-diabetic controls were genotyped for SLC30A8 single nucleotide polymorphisms (SNPs) in a case-control study. All the subjects underwent physical and blood biochemical examination to obtain clinical parameters. Results The genotype frequency and allele frequency distribution of rs13266634 SLC30A8 had statistical differences (P＜0.05) whether or not adjust for the covariates. Rs13266634 risk allele was C [OR(95%CI): 1.186 (1.031～1.364)]. After adjustment for covariates, SLC30A8 gene model analysis showed that rs13666334 additive model was statistically significant [P＜0.05，OR：0.841(0.722～0.980)]; rs3802177 dominant gene model had statistical significance [P＜0.05，OR：0.621(0.338～0.995)]; rs3802177-rs13266634 haplotype (TT) was statistically significant [P＜0.05， OR：0.846(0.734～0.976)]. Generalized multifactor dimensionality reduction (GMDR) analysis showed that the interaction between SL30A8 SNPs had no significance before and after covariate adjustment (P＞0.05). Conclusion Rs13666334 and rs3802177 of SLC30A8 gene are associated with the susceptibility of Uyhgur T2DM. Rs13666334 mutation locus T has protective effect while the risk allele C has a cumulative effect. The haplotype of rs3802177 - rs13266634 (T-T) maybe is one of the Uyghur T2DM protective factors.

【Key words】 Uyhgur; Diabetes mellitus, type 2; SLC30A8; polymorphism; interaction

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