PMID- 17066297 OWN - NLM STAT- MEDLINE DCOM- 20070502 LR - 20181113 IS - 0340-6717 (Print) IS - 0340-6717 (Linking) VI - 120 IP - 6 DP - 2007 Feb TI - The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study. PG - 821-6 AB - 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 = 2.67 95% CI 1.77-4.00); cohort2 (OR = 1.76 95%CI 1.12-2.77)]. 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. FAU - Bhat, Audesh AU - Bhat A AD - National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi, India. FAU - Koul, Anil AU - Koul A FAU - Sharma, Swarkar AU - Sharma S FAU - Rai, Ekta AU - Rai E FAU - Bukhari, S I A AU - Bukhari SI FAU - Dhar, M K AU - Dhar MK FAU - Bamezai, R N K AU - Bamezai RN LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20061026 PL - Germany TA - Hum Genet JT - Human genetics JID - 7613873 RN - 0 (DNA, Mitochondrial) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Alleles MH - Case-Control Studies MH - Cohort Studies MH - DNA, Mitochondrial/*genetics MH - Diabetes Mellitus, Type 2/*genetics MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease MH - *Genetic Variation MH - Haplotypes MH - Humans MH - India MH - Male MH - Middle Aged MH - Polymorphism, Single Nucleotide MH - Risk Factors EDAT- 2006/10/27 09:00 MHDA- 2007/05/03 09:00 CRDT- 2006/10/27 09:00 PHST- 2006/06/24 00:00 [received] PHST- 2006/10/02 00:00 [accepted] PHST- 2006/10/27 09:00 [pubmed] PHST- 2007/05/03 09:00 [medline] PHST- 2006/10/27 09:00 [entrez] AID - 10.1007/s00439-006-0272-4 [doi] PST - ppublish SO - Hum Genet. 2007 Feb;120(6):821-6. doi: 10.1007/s00439-006-0272-4. Epub 2006 Oct 26.