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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1002/cvde.200390014

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1432-1203

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The possible role of 10398A and 16189C mtDNA varia

Authors: Audesh Bhat Anil Koul Swarkar Sharma Ekta Rai S I A Bukhari M K Dhar R N K Bamezai
Publish Date: 2006/10/26
Volume: 120, Issue: 6, Pages: 821-826
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Abstract

The role of mitochondria in causing diseases is becoming evident as more and more studies are focusing on this organelle of the cell This is largely attributed to its reactive oxygen species ROS production property In the context of diabetes ROS is suggested to trigger different forms of insulin resistance involving different mechanisms The suggestive role of a mtDNA variant G10398A in increasing ROS production and the impaired response to oxidative stress due to T16189C variant is worth addressing as genetic susceptibility factors in type 2 diabetes mellitus T2DM A case control study on 312 T2DM cases and ethnically matched 466 controls involving two North Indian populations referred as cohort 1 and cohort 2 in a replicative study was undertaken to test such a genetic association A statistically significant association was observed for 10398A allele in both the cohorts cohort1 OR = 267 95 CI 177–400 cohort2 OR = 176 95CI 112–277 The analysis of G10398A/T16189C haplotypic combinations revealed that 10398A/16189C haplotype provides a risk in both the cohorts To sum up the study suggests that 10398A and 16189C alleles provide susceptiblity to T2DM independently as well as together

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