Association of Epithelial Sodium Channel beta-Subunit Common Polymorphism with Essential Hypertension Families in a Chinese Population

作者：Wang Yanling; Liu Zhi; Hua Qi^*; Chen Ying; Cai Yanning; Liu Rongkun

来源：Cell Biochemistry and Biophysics, 2014, 70(2): 1277-1282.

DOI：10.1007/s12013-014-0051-0

• Epithelial sodium channel
• SCNN1B
• Single nucleotide polymorphism
• Essential hypertension

The purpose of this study was to investigate whether common polymorphisms in the C-terminus of SCNN1B gene encoding the beta-subunit of epithelial sodium channel are associated with essential hypertension (EH) in Chinese hypertensive families. A total of 433 subjects from 102 EH families were recruited. Biochemical and anthropometric indices and systematic screening of the C-terminus of SCNN1B were performed. Four single nucleotide polymorphisms (SNPs) were found. Homozygotes for the common A allele at rs3743966 had on average a 12.06 mmHg higher SBP and a 7.43 mmHg higher DBP than homozygotes for the rarer T allele. AA + AT genotype of rs3743966 was also found to maybe a risk factor of hypertension by logistic regression and transmission/disequilibrium test. AA + AT genotype of rs3743966 maybe a risk factor of EH. In conclusion, there was a significant association between the rs3743966 SNP in intron 12 and EH in Chinese hypertensive families.

• 出版日期2014-11
• 单位首都医科大学