Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians

Am J Hum Genet. 2007 Mar;80(3):407-15. doi: 10.1086/512202. Epub 2007 Jan 22.


Because mitochondria play pivotal roles in both insulin secretion from the pancreatic beta cells and insulin resistance of skeletal muscles, we performed a large-scale association study to identify mitochondrial haplogroups that may confer resistance against or susceptibility to type 2 diabetes mellitus (T2DM). The study population comprised 2,906 unrelated Japanese individuals, including 1,289 patients with T2DM and 1,617 controls, and 1,365 unrelated Korean individuals, including 732 patients with T2DM and 633 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 (i.e., F, B, A, N9a, M7a, M7b, G, D4a, D4b, and D5). Multivariate logistic-regression analysis with adjustment for age and sex revealed that the mitochondrial haplogroup N9a was significantly associated with resistance against T2DM (P=.0002) with an odds ratio of 0.55 (95% confidence interval 0.40-0.75). Even in the modern environment, which is often characterized by satiety and physical inactivity, this haplogroup might confer resistance against T2DM.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Asian Continental Ancestry Group / genetics*
  • Blood Glucose
  • Case-Control Studies
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / metabolism
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes / genetics*
  • Humans
  • Insulin / metabolism
  • Insulin Resistance / genetics*
  • Insulin Secretion
  • Male
  • Middle Aged
  • Mitochondria / genetics*
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci / genetics


  • Blood Glucose
  • DNA, Mitochondrial
  • Insulin