Association of epithelial sodium channel β-subunit common polymorphism with essential hypertension families in a Chinese population.

The purpose of this study was to investigate whether common polymorphisms in the C-terminus of SCNN1B gene encoding the β-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.