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钙蛋白酶10基因单核苷酸多态性SNP - 44影响2型糖尿病及糖尿病相关病症的易感性。

Calpain 10 SNP-44 gene polymorphism affects susceptibility to type 2 diabetes mellitus and diabetic-related conditions.

作者信息

Demirci Huseyin, Yurtcu Erkan, Ergun Mehmet Ali, Yazici Ayse Canan, Karasu Cimen, Yetkin Ilhan

机构信息

Department of Endocrinology, Gazi University Faculty of Medicine, Ankara, Turkey.

出版信息

Genet Test. 2008 Jun;12(2):305-9. doi: 10.1089/gte.2007.0118.

DOI:10.1089/gte.2007.0118
PMID:18554168
Abstract

The association of the gene encoding calpain 10 with type 2 diabetes mellitus (T2DM) has been reported. In this study we aimed to evaluate the association of SNP-19,-44, and -63 polymorphisms of calpain 10 with type 2 diabetes and diabetic-related conditions, such as diabetic retinopathy, nephropathy, and neuropathy in a Turkish population. The study group included 202 patients (133 female and 69 male) with T2DM, while the control group included 80 nondiabetic people (44 female and 36 male). Genotyping was done by the polymerase chain reaction and restriction fragment length polymorphism method. Calpain 10 SNP-44 TC genotype was found to be significantly frequent in type 2 diabetic patients with respect to the control group (p < 0.01). Body mass index (BMI) was found to be significantly high in TC genotype with type 2 diabetic patients (p < 0.05). SNP-44 T allele frequency was found to be lower in type 2 diabetic patients compared with the controls (p < 0.01). We conclude that the calpain 10 SNP-44 gene polymorphism may be accepted as a risk factor in the development of T2DM and elevated BMI in type 2 diabetic patients in a Turkish population.

摘要

钙蛋白酶10编码基因与2型糖尿病(T2DM)的关联已有报道。在本研究中,我们旨在评估钙蛋白酶10的SNP - 19、- 44和 - 63多态性与土耳其人群中2型糖尿病及糖尿病相关病症(如糖尿病视网膜病变、肾病和神经病变)的关联。研究组包括202例2型糖尿病患者(133例女性和69例男性),而对照组包括80例非糖尿病患者(44例女性和36例男性)。采用聚合酶链反应和限制性片段长度多态性方法进行基因分型。与对照组相比,钙蛋白酶10 SNP - 44 TC基因型在2型糖尿病患者中显著更常见(p < 0.01)。在患有2型糖尿病的TC基因型患者中,发现体重指数(BMI)显著较高(p < 0.05)。与对照组相比,2型糖尿病患者中SNP - 44 T等位基因频率较低(p < 0.01)。我们得出结论,在土耳其人群中,钙蛋白酶10 SNP - 44基因多态性可能被视为2型糖尿病发病及2型糖尿病患者BMI升高的一个危险因素。

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