The promoter polymorphism -232C-G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian populationReportar como inadecuado




The promoter polymorphism -232C-G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian population - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Medical Genetics

, 10:83

First Online: 02 September 2009Received: 26 January 2009Accepted: 02 September 2009

Abstract

BackgroundThe PCK1 gene, encoding cytosolic phosphoenolpyruvate carboxykinase PEPCK-C, has previously been implicated as a candidate gene for type 2 diabetes T2D susceptibility. Rodent models demonstrate that over-expression of Pck1 can result in T2D development and a single nucleotide polymorphism SNP in the promoter region of human PCK1 -232C-G has exhibited significant association with the disease in several cohorts. Within the UK-resident South Asian population, T2D is 4 to 6 times more common than in indigenous white Caucasians. Despite this, few studies have reported on the genetic susceptibility to T2D in this ethnic group and none of these has investigated the possible effect of PCK1 variants. We therefore aimed to investigate the association between common variants of the PCK1 gene and T2D in a UK-resident South Asian population of Punjabi ancestry, originating predominantly from the Mirpur area of Azad Kashmir, Pakistan.

MethodsWe used TaqMan assays to genotype five tagSNPs covering the PCK1 gene, including the -232C-G variant, in 903 subjects with T2D and 471 normoglycaemic controls.

ResultsOf the variants studied, only the minor allele G of the -232C-G SNP demonstrated a significant association with T2D, displaying an OR of 1.21 95% CI: 1.03 - 1.42, p = 0.019.

ConclusionThis study is the first to investigate the association between variants of the PCK1 gene and T2D in South Asians. Our results suggest that the -232C-G promoter polymorphism confers susceptibility to T2D in this ethnic group.

Trial RegistrationUKADS Trial Registration : ISRCTN38297969

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2350-10-83 contains supplementary material, which is available to authorized users.

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Autor: Simon D Rees - Abigail C Britten - Srikanth Bellary - J Paul O-Hare - Sudhesh Kumar - Anthony H Barnett - M Ann Kelly

Fuente: https://link.springer.com/







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