Associations of epithelial sodium channel genes with blood pressure: the GenSalt study

In order to investigate associations of SCNN1A, SCNN1G and SCNN1B genes with blood pressure (BP) in Han Chinese population, we included 2 880 participants did not use antihypertensive medication in the month prior to the baseline survey in the current analysis. Forty-four tag-SNPs in epithelial sodium channel (ENaC) genes were selected and genotyped and nine BP measurements were obtained during 3-day examination. In single-marker analyses, we identified significant associations of SCNN1A marker rs13306613 with diastolic BP (DBP) and SCNN1B marker rs12447134 with systolic BP (SBP) under codominant model after Bonferroni correction (P= 2.82×10(−5) and 4.63×10(−4), respectively). In addition, 5 SNPs in SCNN1G and 4 SNPs in SCNN1B achieved nominal significance for SBP, DBP or mean arterial pressure (MAP) under the additive model. For example, the minor C allele of rs5735 in SCNN1G gene was associated with decreased SBP, DBP and MAP (P=0.016, 5.41×10(−3), and 4.36×10(−3), respectively). Gene-based results showed significant associations of SCNN1G and SCNN1Bwith BP levels. This study suggested that ENaC genes play important roles in BP regulation in the Han Chinese population. Future studies are warranted to replicate these findings and functional studies are needed to identify true causal variants in ENaC genes.