title: A novel 5'-uncoding region -1248 A>G variation of mitofusin-2 gene is associated with hypertension in Chinese.
abstract: OBJECTIVE
  Mitofusin2 gene (Mfn2, also named Hyperplasia suppressive gene, HSG) is very important in the origin and development of hypertension. However, the mechanism of Mfn2/HSG expression regulation was not uncovered. This study was designed to explore the association of a novel 5'-uncoding region (UCR) -1248 A>G variation of HSG/Mfn2 gene and hypertension.
  
  
  METHODS
  472 healthy, normotensive subjects [normotension (NT) group], 454 prehypertensive subjects [prehypertension (PH) group] and 978 hypertensive patients [essential hypertension (EH) group] were screened for an association study between 5'-UCR -1248 A>G of Mfn2/HSG and hypertension by polymerase chain reaction and DNA sequencing after venous blood was drawn and DNA was extracted.
  
  
  RESULTS
  When comparing the A and G frequency in EH, PH and NT groups, in total, NT group significantly had higher A frequency than in PH group [odds ratio (OR)=1.605, confidence interval (CI) 95%=1.063-2.242, p=0.025] and EH group (OR=5.395, CI 95%=3.783-7.695, p<0.01). When subgrouped by gender, A frequency in NT group was still significantly higher than in EH group (male: OR= 4.264, CI 95%=2.780-6.543, p<0.01; female: OR=8.897, CI 95%=4.686-16.891, p<0.01), but not from PH group, either in male group or in female group. Ordinal Logistic Regression analysis showed that A>G variation was significantly related with blood pressure level (B=-1.271, Wald=40.914, CI 95%=-1.660 - -0.881, p<0.01).
  
  
  CONCLUSIONS
  5'-UCR -1248 A>G variation of Mfn2/HSG gene was a novel variation and may be associated with hypertension in Chinese.
authors.affiliation: Department of Hypertension, Beijing Institute of Heart, Lung, Blood Vessel Diseases, Beijing Anzhen Hospital, Capital Medical University, No. 2, Anzhenlu, Andingmenwai, Chaoyang District, Beijing, 100029, PR China. wangzg70@gmail.com
authors.forename: Zuoguang
authors.initials: Z
authors.lastname: Wang
authors.forename: Ya
authors.initials: Y
authors.lastname: Liu
authors.forename: Jieling
authors.initials: J
authors.lastname: Liu
authors.forename: Qiuli
authors.initials: Q
authors.lastname: Niu
authors.forename: Jie
authors.initials: J
authors.lastname: Wen
authors.forename: Shaojun
authors.initials: S
authors.lastname: Wen
authors.forename: Zhaosu
authors.initials: Z
authors.lastname: Wu
mesh_terms: D002681:China; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005786:Gene Expression Regulation; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human
keywords: Hyperplasia suppressor gene; Mitofusin-2; essential hypertension; single nucleotide polymorphism; transcription regulation
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