title: Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females.
abstract: Mitochondrion-derived reactive oxygen species possibly play an important role in the pathogenesis of atherosclerosis and atherothrombotic cerebral infarction, because mitochondria in vascular endothelial cells are the major site of superoxide production. In the present study, we surveyed mitochondrial haplogroups associated with atherothrombotic cerebral infarction in 1081 Japanese subjects. Twenty-six mitochondrial single nucleotide polymorphisms of 11 major mitochondrial haplogroups (F, B, A, N9a, M7a, M7b, M7c, G1, G2, D4, and D5) were determined by use of 28-plex PCR and fluorescent beads combined with sequence-specific oligonucleotide probes. Multivariate logistic regression analysis with adjustment for conventional risk factors revealed that mitochondrial haplogroup A was associated with atherothrombotic cerebral infarction in female subjects (P< 0.05). However, no significant association was detected for males. Our study shows that haplogroup A confers an increased risk of atherothrombotic cerebral infarction in Japanese females. Validation of our findings will require additional studies with independent subject panels.
authors.affiliation: Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo 173-0015, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Nishigaki
authors.forename: Yoshiji
authors.initials: Y
authors.lastname: Yamada
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Fuku
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Matsuo
authors.forename: Tomonori
authors.initials: T
authors.lastname: Segawa
authors.forename: Sachiro
authors.initials: S
authors.lastname: Watanabe
authors.forename: Kimihiko
authors.initials: K
authors.lastname: Kato
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Yokoi
authors.forename: Sachiyo
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Nozawa
authors.forename: Masashi
authors.initials: M
authors.lastname: Tanaka
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D050197:Atherosclerosis / Q000235:genetics*; D002544:Cerebral Infarction / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007564:Japan; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors; D013927:Thrombosis / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial