Association of Connexin Gene Polymorphism with Essential Hypertension in Kazak and Han Chinese in Xinjiang,China

• Published in: Journal of Huazhong University of Science and Technology. Medical sciences 2017-04, Vol.37 (2), p.197-203
• Main Author: 王立杰 张文雯 张亮 石文艳 王英姿 马克涛 刘卫东 赵磊 李丽 司军强
• Format: Article
• Language: English
• Subjects: Adult; Aged; Asian People - ethnology; Asian People - genetics; Connexin 43 - genetics; Connexins - genetics; Essential Hypertension; Female; Gap Junction alpha-4 Protein; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Hypertension - ethnology; Hypertension - genetics; MALDI-TOF-MS; Male; Medicine; Medicine & Public Health; Middle Aged; Polymorphism, Single Nucleotide; 关联; 原发性高血压; 基因多态性; 基质辅助激光解吸电离飞行时间质谱; 新疆; 汉族; 连接蛋白
• ISSN: 1672-0733; 1993-1352
• DOI: 10.1007/s11596-017-1715-y

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.