Indian Journal of Human Genetics
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ORIGINAL ARTICLE
Year : 2014  |  Volume : 20  |  Issue : 1  |  Page : 37-42

Association study of the ABCC8 gene variants with type 2 diabetes in south Indians


1 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
2 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

Correspondence Address:
Radha Venkatesan
Department of Molecular Genetics, Madras Diabetes Research Foundation, 4, Conransmith Road, Gopalapuram, Chennai 600 086, Tamil Nadu
India
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Source of Support: This work was funded by Indian Council for Medical Research (ICMR),, Conflict of Interest: None


DOI: 10.4103/0971-6866.132752

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Background: 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. Materials and Methods: 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. Results: 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. Conclusion: 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.


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