Investigating the rs2237892 and rs231362 Polymorphisms of KCNQ1 Gene Associations with Type 2 Diabetes in an Iranian Population (Yazd Province)

M. Padidaran, M. Mirzaei, F. Shamsi, S. Kalantar, M. Sheikhha
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Abstract

Objective: Type 2 diabetes (T2DM) is a worldwide prevalent metabolic disorder and the cause of many morbidities and mortalities. KCNQ1 gene encodes α-subunit of voltage-gated potassium (K+) channel which plays a role in insulin secretion in the pancreas, thus its variants may confer susceptibility to diabetes. Recognition of genetic variants involved in T2DM could help the early diagnosis and prevention of the disease. The main purpose of this paper was to investigate the frequencies of rs231362 and rs2237892 polymorphisms of KCNQ1 gene in T2DM patients and comparing these frequencies with normal subjects in an Iranian population from Yazd province, Iran. Materials and Methods: This case-control study was conducted on 166 patients with T2DM and 168 normal subjects. After obtaining the informed consent, 5 ml peripheral blood was taken from the cases and controls and then DNA was extracted. The molecular investigation was done using 4-primer ARMS PCR and PCR-RFLP methods. Results: Statistical analysis showed that GG genotype [OR= 3.9 (2.1-7.1), P-value< 0.001] and G allele [OR=2.85 (2.07-3.93), P-value< 0.001] frequency of rs231362 polymorphism was significantly different between case and control groups. While rs2237892 polymorphism did not show any differences between the two groups. Conclusion: The result of this study showed that GG genotype and G allele of rs231362 polymorphism can be related to T2DM susceptibility in the population under study.
伊朗亚兹德省人群KCNQ1基因rs2237892和rs231362多态性与2型糖尿病的相关性研究
目的:2型糖尿病(T2DM)是一种世界范围内普遍存在的代谢性疾病,是许多发病率和死亡率的原因。KCNQ1基因编码在胰腺胰岛素分泌中起作用的电压门控钾(K+)通道α-亚基,因此其变异可能与糖尿病易感性有关。识别与T2DM相关的基因变异有助于早期诊断和预防该病。本文的主要目的是研究T2DM患者中KCNQ1基因rs231362和rs2237892多态性的频率,并将这些频率与伊朗亚兹德省伊朗人群中的正常受试者进行比较。材料与方法:对166例T2DM患者和168例正常人进行病例对照研究。在获得知情同意后,抽取病例和对照组外周血5 ml,提取DNA。采用4引物ARMS PCR和PCR- rflp方法进行分子分析。结果:GG基因型[OR= 3.9 (2.1 ~ 7.1), p值< 0.001]和G等位基因[OR=2.85 (2.07 ~ 3.93), p值< 0.001]rs231362多态性频次在病例组与对照组之间差异有统计学意义。而rs2237892多态性在两组间无差异。结论:本研究结果表明,GG基因型和rs231362基因多态性的G等位基因可能与研究人群的T2DM易感性有关。
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26 weeks
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