A Novel 5'-Uncoding Region -1248 A>G Variation of Mitofusin-2 Gene Is Associated with Hypertension in Chinese.
10.3349/ymj.2013.54.3.603
- Author:
Zuoguang WANG
1
;
Ya LIU
;
Jieling LIU
;
Qiuli NIU
;
Jie WEN
;
Shaojun WEN
;
Zhaosu WU
Author Information
1. Department of Hypertension, Beijing Institute of Heart, Lung, Blood Vessel Diseases, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. wangzg70@gmail.com, wzg70@hotmail.com
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Hyperplasia suppressor gene;
Mitofusin-2;
single nucleotide polymorphism;
essential hypertension;
transcription regulation
- MeSH:
China;
Female;
GTP Phosphohydrolases/*genetics;
Gene Expression Regulation;
Genetic Association Studies;
Genotype;
Humans;
Hypertension/*genetics;
Logistic Models;
Male;
Mitochondrial Proteins/*genetics;
*Polymorphism, Single Nucleotide;
Sequence Analysis, DNA
- From:Yonsei Medical Journal
2013;54(3):603-608
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: 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. MATERIALS AND 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). CONCLUSION: 5'-UCR -1248 A>G variation of Mfn2/HSG gene was a novel variation and may be associated with hypertension in Chinese.