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首页> 外文期刊>Genetic testing and molecular biomarkers >Association of Genetic Variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 Diabetes Mellitus in Tunisia
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Association of Genetic Variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 Diabetes Mellitus in Tunisia

机译:协会TCF7L2基因变异的SLC30A8、HHEX LOC387761和EXT2 2型糖尿病在突尼斯

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Aim: In recent genome-wide association studies, genetic variants in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 were associated with risk for type 2 diabetes mellitus (T2DM). We aimed at investigating the association of these single-nucleotide polymorphisms (SNPs) with T2DM and defining their corresponding allelic and genotypic combinations in the Tunisian population. We also tried to determine the effect of R325W of SLC30A8 on the modeled structural properties of the protein. Methods: Five SNPs were genotyped in 331 T2DM Tunisian patients and 403 healthy subjecs by polymerase chain reaction-restriction fragment length polymorphism. A model of residues 318-366 of the SLC30A8 protein was built by homology modeling. Results: LOC387761 provided the strongest evidence for replication, where rs7480010 presented a risk of 2.41 with T2DM, followed by rs1111875 in HHEX (odds ratio = 1.95) and rs13266634 in SLC30A8 (odds ratio = 1.59). None of the two other SNPs previously reported was associated. The highest risk of T2DM was 3.1, obtained by the genotype combination of the three associated SNPs. Modeling of the cytoplasmic part of the SLC30A8 protein showed that the R325W change might affect the electrostatic potential of the SLC30A8 protein. Conclusion: We concluded that the SLC30A8, HHEX, and LOC387761 are more likely to represent the genuine signals of T2DM in the Tunisian population.
机译:目的:在最近的全基因组关联研究,基因变异在TCF7L2 SLC30A8 HHEX,LOC387761和EXT2与风险有关2型糖尿病(T2DM)病人体内。调查这些协会单核苷酸多态性(snp)与2型糖尿病并定义相应的等位基因基因型组合在突尼斯人口。R325W SLC30A8的模型结构蛋白质的性质。突尼斯331年基因分型2型糖尿病患者和403年由聚合酶链健康”reaction-restriction片段长度多态性。SLC30A8蛋白质是由同源建模。结果:LOC387761提供最强的rs7480010复制的证据提出了一个2.41和2型糖尿病的风险,其次是在HHEX rs1111875(优势比= 1.95)在SLC30A8 rs13266634(优势比= 1.59)。另外两个snp之前报道的相关联的。通过这三个基因型组合单核苷酸多态性有关。表明R325W SLC30A8的蛋白质变化可能影响静电势SLC30A8的蛋白质。SLC30A8, HHEX, LOC387761更可能代表了真正的信号的2型糖尿病在突尼斯的人口。

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