Mitochondrial genome polymorphisms associated with performance in marathon and obesity

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Since mitochondria play pivotal roles both in insulin secretion from the pancreatic beta cells and in insulin resistance of skeletal muscles, we performed a large-scale association study to identify mitochondrial haplogroups that confer resistance against or susceptibility to metabolic syndrome (MS). The study population comprised 1337 unrelated Japanese individuals, including 871 subjects with MS and 466 controls. The genotypes for 25 polymorphisms in the coding region of the mitochondrial genome were determined, and the haplotypes were classified into 10 major haplogroups. Multivariate logistic regression analysis with adjustment for age and the prevalence of smoking revealed that the haplogroups N9a, Gl, and D5 were significantly associated with resistance against MS in women. We also performed a large-scale association study to identify mitochondrial haplogroups that confer resistance against or susceptibility to type 2 diabetes (T2DM). The study population comprised 2906 unrelated … More Japanese individuals, including 1289 patients with T2DM and 1617 controls. The genotypes for 25 polymorphisms in the coding region of the mitochondrial genome were determined, and the haplotypes were classified into 10 major haplogroups. Multivariate logistic regression analysis with adjustment for age and the prevalence of smoking revealed that the haplogroup F was significantly associated with susceptibility to T2DM (P = 0.0028) with an odds ratio of 1.54. In contrast, subjects with the haplogroup N9a tended to have a reduced risk for this condition (P = 0.0233), having an odds ratio of 0.64. In women, the haplogroup N9a was significantly protective against T2DM (P = 0.0042), showing an odds ratio of 0.27. Women with both haplogroups F and A tended to have an increased risk for T2DM (OR 1.78 and 1.67, respectively), whereas men with the haplogroup F tended to have an increased risk for it (OR 1.43). Haplogrouping for these mitochondrial single nucleotide polymorphisms may prove informative for predicting the genetic risk for MS and T2DM. Less