title: Association of connexin gene polymorphism with essential hypertension in Kazak and Han Chinese in Xinjiang, China.
abstract: Essential hypertension (EH) is affected by both genetic and environmental factors. The polymorphism of connexin (Cx) genes is found associated with the development of hypertension. However, the association of the polymorphism of Cxs with EH has not been investigated. This study aimed to investigate the association of the polymorphism of connexin (Cx) genes Cx37, Cx40, and Cx43 with EH in Kazak and Han Chinese in Xinjiang, China. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS) were used to analyze the polymorphism of Cx genes in Kazak and Han EH patients as well as their normotensive controls. The results showed that there were no significant differences in the frequencies of different three genotypes (A/A, A/G, and G/G) and A and G alleles of Cx40 rs35594137 and rs11552588 between EH patients and normotensive controls. However, in Kazak EH patients, the frequencies of three genotypes (A/A, A/G, and G/G) of Cx37 rs1630310 were 24.8%, 47.2% and 28.0%, respectively, which were significantly different from those in Han EH patients. In Han EH patients, the frequencies of the three genotypes (C/C, C/G and G/G) of Cx43 rs1925223 were 6.4%, 35.6% and 58.0%, respectively. Frequencies of the other four genotypes had no statistical differences among Kazak and Han EH patients and their normotensive controls. These results suggest polymorphisms of Cx37 rs1630310 and Cx43 rs1925223 genes may be associated with the pathogenesis of EH. Carrying Cx37 rs1630310-A or Cx43 rs1925223-G genotypes may protect against the development of EH.
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China.|Department of ICU, First Affiliated Hospital of Shihezi University School of Medicine, Shihezi, 832008, China.
authors.forename: Li-Jie
authors.initials: LJ
authors.lastname: Wang
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China.|The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China.
authors.forename: Wen-Wen
authors.initials: WW
authors.lastname: Zhang
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China.|The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China.|The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China.
authors.forename: Wen-Yan
authors.initials: WY
authors.lastname: Shi
authors.affiliation: The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China.
authors.forename: Ying-Zi
authors.initials: YZ
authors.lastname: Wang
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China.|The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China.
authors.forename: Ke-Tao
authors.initials: KT
authors.lastname: Ma
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China.|The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China.
authors.forename: Wei-Dong
authors.initials: WD
authors.lastname: Liu
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China.|The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China. lily7588@163.com.|The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China. lily7588@163.com.
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.affiliation: Department of Physiology, Medical College of Shihezi University, Shihezi, 832002, China. sijunqiang@shzu.edu.cn.|The Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Medical College of Shihezi University, Shihezi, 832002, China. sijunqiang@shzu.edu.cn.|Department of Physiology, School of Basic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. sijunqiang@shzu.edu.cn.|Department of Physiology, Wuhan University School of Basic Medical Sciences, Wuhan, 430030, China. sijunqiang@shzu.edu.cn.
authors.forename: Jun-Qiang
authors.initials: JQ
authors.lastname: Si
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000208:ethnology* / Q000235:genetics; D018031:Connexin 43 / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D000075222:Essential Hypertension; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000097006:Gap Junction alpha-4 Protein
chemical_list: D018031:Connexin 43; D017630:Connexins; D000097006:Gap Junction alpha-4 Protein; C500216:GJA1 protein, human; C484032:GJD4 protein, human
keywords: Han Chinese; Kazak Chinese; connexin genes; essential hypertension; single nucleotide polymorphism