title: The Association of Mitofusion-2 Gene Polymorphisms with Susceptibility of Essential Hypertension in Northern Han Chinese Population.
abstract: BACKGROUND
  Mitofusion-2 (Mfn2) played an important role in regulating vascular smooth muscle cells proliferation, insulin resistance and endoplasmic reticulum stress, which were found to be involved in the development of hypertension. So we inferred that the Mfn2 gene may participate in the pathogenesis of hypertension. The aim of this study was to determine whether common single nucleotide polymorphisms (SNPs) in Mfn2 gene were associated with essential hypertension (EH) in northern Han Chinese.
  
  
  METHODS
  We genotyped 6 tagging SNPs of Mfn2 gene (rs2336384, rs2295281, rs17037564, rs2236057, rs2236058 and rs3766741) with the TaqMan assay in 626 hypertensive patients and 618 controls.
  
  
  RESULTS
  Logistic regression analysis indicated that CC+CA genotype of rs2336384 and AA+AG genotype of rs2236057 were significantly associated with increased risk of EH (OR=1.617, P=0.005; OR=1.418, P=0.031, respectively). GG genotype of rs2236058 and GG+CG genotype of rs3766741 were found to be significantly associated with decreased risk of EH (OR=0.662, P=0.023; OR=0.639, P=0.024).When stratified by gender, for rs2336384, rs2236057 and rs2236058, significant association was observed in males, but not in females. Haplotype analysis indicated that the CCAACC haplotype was positively correlated with EH and there was a negative correlation between ACAGGG haplotype and EH.
  
  
  CONCLUSIONS
  This study demonstrated that Mfn2 gene polymorphisms were associated with essential hypertension in northern Han Chinese population, especially in male subjects.
authors.affiliation: 1. Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.
authors.forename: Mei
authors.initials: M
authors.lastname: Li
authors.affiliation: 1. Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.
authors.forename: Bei
authors.initials: B
authors.lastname: Zhang
authors.affiliation: 1. Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.
authors.forename: Chuang
authors.initials: C
authors.lastname: Li
authors.affiliation: 1. Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.
authors.forename: Jielin
authors.initials: J
authors.lastname: Liu
authors.affiliation: 1. Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.
authors.forename: Ya
authors.initials: Y
authors.lastname: Liu
authors.affiliation: 1. Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.
authors.forename: Dongdong
authors.initials: D
authors.lastname: Sun
authors.affiliation: 2. Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, People's Republic of China.
authors.forename: Hanying
authors.initials: H
authors.lastname: Ma
authors.affiliation: 1. Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.
authors.forename: Shaojun
authors.initials: S
authors.lastname: Wen
mesh_terms: D000328:Adult; D002681:China; D000075222:Essential Hypertension; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012727:Sex Characteristics
chemical_list: D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human
keywords: essential hypertension; haplotype; mitofusion-2; northern Han Chinese population; polymorphism
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