A contingency table analysis of the frequencies of the very old subjects and the controls in subhaplogroups J2, D5, M7b, T2, U5 and N9a revealed a significant heterogeneity (χ2=17.604, df=5, P=0.0035). Subhaplogroups J2, D5 and M7b were more common among the very old, and the combined frequency of these subhaplogroups was significantly higher among the very old subjects than among the controls
European Journal of Human Genetics
advance online publication 13 October 2004; doi:10.1038/sj.ejhg.5201308
A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects
Anna-Kaisa Niemi et al.
Mitochondrial DNA (mtDNA) coding region polymorphisms, as well as the 150T polymorphism in the noncoding region, have been associated with longevity. We have studied here the association of 150T with longevity further and assessed differences in this association between various mtDNA haplogroups. We analysed a sample of 321 very old subjects and 489 middle-aged controls from Finland and Japan. 150T was more frequent among the very old than among the controls in both the Finnish and Japanese subjects. Interestingly, the association was not similar in all haplogroups, and a stratified analysis revealed that two additional common polymorphisms, 489C and 10398G, modified the association between 150T and longevity. These findings suggest that longevity is partly determined by epistatic interactions involving these three mtDNA loci.