title: Age-dependent association of the polymorphisms in the mitochondria-shaping gene, OPA1, with blood pressure and hypertension in Korean population.
abstract: BACKGROUND
  Essential hypertension is associated with mitochondrial dysfunction. Because mitochondrial dynamics; mitochondrial morphological changes are closely linked with various mitochondrial functions, we aimed to examine whether the genetic variation of the mitochondria-shaping genes influenced the susceptibility to blood pressure (BP) and hypertension.
  
  
  METHODS
  The quantitative BP trait analysis and hypertension case-control analysis for the total 52 single-nucleotide polymorphisms (SNPs) in the five major mitochondria-shaping genes were performed in the Korean Association Resource (KARE) study cohort (8,512 subjects).
  
  
  RESULTS
  In the total subjects of the KARE study cohort, there were no statistically significant associations of the SNPs in the five mitochondria-shaping genes with BP or hypertension after adjusting for multiple tests. However, the age group analysis in the 40s, 50s, and 60s age subgroups revealed that 15 SNPs out of 26 SNPs genotyped in the OPA1 gene were significantly associated with BP and/or hypertension in the 60s age subgroup and their association P values satisfied the Bonferroni-corrected significance level (P < 0.00625). Noticeably, nine SNPs were consistently associated with all the three traits; systolic BP (SBP), diastolic BP (DBP), and hypertension. In silico lookup of the associated SNPs in the Southern German population did not reveal associations with BP traits.
  
  
  CONCLUSIONS
  Our results indicate that genetic variation of the mitochondrial fusion-regulating gene, OPA1, might be associated with BP and hypertension in an age-dependent and population-specific manner in the Korean study cohort, and suggest that altered mitochondrial dynamics, especially involved in the mitochondrial fusion event, may play an important role in the pathogenesis of hypertension.
authors.affiliation: Department of Medical Genetics, School of Medicine, Ajou University, Suwon, Republic of Korea.
authors.forename: Hyun-Seok
authors.initials: HS
authors.lastname: Jin
authors.forename: Siim
authors.initials: S
authors.lastname: Sober
authors.forename: Kyung-Won
authors.initials: KW
authors.lastname: Hong
authors.forename: Elin
authors.initials: E
authors.lastname: Org
authors.forename: Bo-Young
authors.initials: BY
authors.lastname: Kim
authors.forename: Maris
authors.initials: M
authors.lastname: Laan
authors.forename: Bermseok
authors.initials: B
authors.lastname: Oh
authors.forename: Seon-Yong
authors.initials: SY
authors.lastname: Jeong
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001794:Blood Pressure; D002118:Calcium / Q000378:metabolism; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017382:Reactive Oxygen Species
chemical_list: D017382:Reactive Oxygen Species; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human; D002118:Calcium