Women With Mitochondrial Haplogroup N9a Are Protected Against Metabolic Syndrome
Masashi Tanaka 1 ,
Noriyuki Fuku 1 ,
Yutaka Nishigaki 1 ,
Hitoshi Matsuo 2 ,
Tomonori Segawa 2 ,
Sachiro Watanabe 2 ,
Kimihiko Kato 3 ,
Kiyoshi Yoko 3 ,
Masafumi Ito 4 ,
Yoshinori Nozawa 4 and
Yoshiji Yamada 5
1 Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan
2 Department of Cardiology, Gifu Prefectural Gifu Hospital, Gifu, Japan
3 Department of Cardiovascular Medicine, Gifu Prefectural Tajimi Hospital, Tajimi, Japan
4 Gifu International Institute of Biotechnology, Kakamigahara, Japan
5 Department of Human Functional Genomics, Life Science Research Center, Mie University, Tsu, Japan
Address correspondence and reprint requests to Masashi Tanaka, MD, PhD, Department of Genomics for Longevity and Health, Tokyo
Metropolitan Institute of Gerontology, Tokyo, 35-2 Sakae-cho, Itabashi-ku, Tokyo 173-0015, Japan. E-mail: mtanaka{at}tmig.or.jp
Abstract
To identify mitochondrial haplogroups that confer resistance against or susceptibility to metabolic syndrome, we performed
a large-scale association study on 1,337 unrelated Japanese individuals, including 871 subjects with metabolic syndrome and
466 control subjects. Metabolic syndrome was diagnosed according to modified National Cholesterol Education Program Adult
Treatment Panel III guidelines, using the cutoff point for obesity as a BMI of ≥25 kg/m 2 instead of waist circumference. 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, G1, G2, D5, and D4.
Multivariate logistic regression analysis revealed that the haplogroup N9a was significantly associated with resistance against
metabolic syndrome in women with an odds ratio (OR) of 0.21 (95% CI 0.07–0.58, P = 0.0042). Women with haplogroups G1 and D5 tended to be resistant against metabolic syndrome with an OR of 0.22 (0.06–0.68,
P = 0.0129) for G1 and with an OR of 0.32 (0.10–0.96, P = 0.0469) for D5, respectively. These results indicate that mitochondrial haplogroup N9a may be a protective factor against
metabolic syndrome in Japanese women.
mtDNA, mitochondiral DNA
mtSNP, mitochondrial single nucleotide polymorphism
Footnotes
Additional information for this article can be found in an online appendix at http://dx.doi.org/10.2337/db06-1105 .
The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore
be hereby marked “advertisement” in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.
Accepted November 3, 2006.
Received August 8, 2006.
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Women With Mitochondrial Haplogroup N9a Are Protected Against Metabolic Syndrome

10.2337/db06-1105