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在巴西心血管疾病风险患者样本中,TCF7L2基因变异与2型糖尿病之间不存在关联。

Lack of association between TCF7L2 gene variants and type 2 diabetes mellitus in a Brazilian sample of patients with the risk for cardiovascular disease.

作者信息

Wunsch Camile, Dornelles Thais Fernanda, Girardi Pricila, Arndt Marcelo Emilio, Genro Julia Pasqualini, Contini Veronica

机构信息

PostgraduateProgram in Biotechnology, Universidade do Vale do Taquari- Univates,Lajeado, RS, Brasil.

Hemodynamic Center, Hospital Bruno Born, Lajeado, RS, Brasil.

出版信息

Endocr Regul. 2019 Jan 1;53(1):1-7. doi: 10.2478/enr-2019-0001.

Abstract

OBJECTIVE

Genetic variants in the transcription factor 7-like 2 (TCF7L2) gene have been described as the most noteworthy ones regarding the type 2 diabetes mellitus (T2DM) liability. This work is aimed to evaluate the association between rs12255372 and rs7903146 polymorphisms and T2DM in patients with cardiovascular disease (CAD) risk.

METHODS

A sample of six hundred and forty-seven patients that underwent the coronary angiography in a Cardiac Catheterization Lab was evaluated. The patients were investigated for the presence of T2DM and coronary stenosis. The TCF7L2 polymorphisms were genotyped by real-time PCR and the haplotype analysis was performed with the MLOCUS software. All genetic tests were carried out by considering the haplotype combinations in patients divided into three groups: 0 - carrying none disease risk allele, 1 - carrying one or two risk alleles and 2 - carrying three or four risk alleles.

RESULTS

No significant associations between TCF7L2 risk haplotypes and the presence of T2DM or CAD were detected.

CONCLUSIONS

Our results indicate that the TCF7L2 rs12255372 and rs7903146 polymorphisms do not influence T2DM in Brazilian patients with the high risk for CAD. Therefore, we assume that these variants may only be relevant for a specific subgroup of T2DM patients or some particular human population.

摘要

目的

转录因子7样2(TCF7L2)基因的遗传变异已被描述为与2型糖尿病(T2DM)易感性最相关的变异。本研究旨在评估rs12255372和rs7903146多态性与有心血管疾病(CAD)风险的患者患T2DM之间的关联。

方法

对在心脏导管实验室接受冠状动脉造影的647例患者进行了样本评估。对患者进行T2DM和冠状动脉狭窄的检查。通过实时PCR对TCF7L2多态性进行基因分型,并用MLOCUS软件进行单倍型分析。所有基因检测均考虑将患者分为三组后的单倍型组合:0 - 不携带任何疾病风险等位基因,1 - 携带一个或两个风险等位基因,2 - 携带三个或四个风险等位基因。

结果

未检测到TCF7L2风险单倍型与T2DM或CAD存在之间的显著关联。

结论

我们的结果表明,TCF7L2的rs12255372和rs7903146多态性对有CAD高风险的巴西患者患T2DM没有影响。因此,我们推测这些变异可能仅与T2DM患者的特定亚组或某些特定人群相关。

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