Venkatesan Radha, Bodhini Dhanasekaran, Narayani Nagarajan, Mohan Viswanathan
Department of Molecular Genetics, World Health Organization Collaborating Centre for Non Communicable Diseases Prevention and Control, International Diabetes Federation Centre for Education, Gopalapuram, Chennai, Tamil Nadu, India.
Diabteology, Madras Diabetes Research Foundation and Dr. Mohan's Diabetes Specialities Centre, World Health Organization Collaborating Centre for Non Communicable Diseases Prevention and Control, International Diabetes Federation Centre for Education, Gopalapuram, Chennai, Tamil Nadu, India.
Indian J Hum Genet. 2014 Jan;20(1):37-42. doi: 10.4103/0971-6866.132752.
The ABCC8 gene which encodes the sulfonylurea receptor plays a major role in insulin secretion and is a potential candidate for type 2 diabetes. The -3c → t (rs1799854) and Thr759Thr (C → T, rs1801261) single nucleotide polymorphisms (SNPs) of the ABCC8 gene have been associated with type 2 diabetes in many populations. The present study was designed to investigate the association of these two SNPs in an Asian Indian population from south India.
A total of 1,300 subjects, 663 normal glucose tolerant (NGT) and 637 type 2 diabetic subjects were randomly selected from the Chennai Urban Rural Epidemiology Study (CURES). The -3c → t and Thr759Thr were genotyped in these subjects using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and a few variants were confirmed by direct sequencing.
The frequency of the 't' allele of the -3c → t SNP was found to be 0.27 in NGT and 0.29 in type 2 diabetic subjects (P = 0.44). There was no significant difference in the genotypic frequency between the NGT and type 2 diabetic group (P = 0.18). Neither the genotypic frequency nor the allele frequency of the Thr759Thr polymorphism was found to differ significantly between the NGT and type 2 diabetic groups.
The -3c → t and the Thr759Thr polymorphisms of the ABCC8 gene were not associated with type 2 diabetes in this study. However, an effect of these genetic variants on specific unidentified sub groups of type 2 diabetes cannot be excluded.
编码磺脲类受体的ABCC8基因在胰岛素分泌中起主要作用,是2型糖尿病的一个潜在候选基因。ABCC8基因的-3c→t(rs1799854)和Thr759Thr(C→T,rs1801261)单核苷酸多态性(SNP)在许多人群中与2型糖尿病相关。本研究旨在调查印度南部亚洲印度人群中这两种SNP的关联性。
从金奈城乡流行病学研究(CURES)中随机选取1300名受试者,其中663名糖耐量正常(NGT)者和637名2型糖尿病患者。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对这些受试者的-3c→t和Thr759Thr进行基因分型,部分变异通过直接测序进行确认。
-3c→t SNP的“t”等位基因频率在NGT组中为0.27,在2型糖尿病患者中为0.29(P = 0.44)。NGT组和2型糖尿病组之间的基因型频率无显著差异(P = 0.18)。在NGT组和2型糖尿病组之间,Thr759Thr多态性的基因型频率和等位基因频率均无显著差异。
本研究中,ABCC8基因的-3c→t和Thr759Thr多态性与2型糖尿病无关。然而,不能排除这些基因变异对2型糖尿病特定未识别亚组的影响。