Lack of association of functional variants in alpha-ENaC gene and essential hypertension in two ethnic groups in China

Background: It has been proposed that subtle genetic changes in epithelial sodium channel (ENaC) subunits might be at the origin of less rare forms of hypertension. In some populations, subtle functional genetic changes in ENaC genes associated with essential hypertension were indeed observed. To further test this hypothesis, we observed the role of three functional variants G2139A, A334T and A663T in the alpha-ENaC gene on essential hypertension in two Chinese minority groups, the Kazaks and Uyghurs.

Methods: A population-based case-control study was carried out in the two populations mentioned above.

Results: The distribution of genotype and allele frequencies of G2139A, A334T and A663T did not differ significantly between hypertensive subjects and control subjects in both Kazak and Uyghur populations. No significant associations of the three polymorphisms with hypertension were observed in both populations in univariate and multivariate logistic regression analysis by applying dominant, additive and recessive models. Haplotype-based association analysis based on G2139A, A334T and A663T did not show significant association between hypertensive subjects and control subjects in both populations.

Conclusions: For the above variants, we did not confirm the hypothesis that subtle genetic changes in alpha-ENaC subunits might be at the origin of essential hypertension in our populations.