Association of ATP2B1 and STK39 gene variants with blood pressure levels in patients with essential hypertension

Introduction ATP2B1 and STK39 loci influence blood pressure in genome-wide association studies. We tested whether ATP2B1 rs2681472 and STK39 rs35929607 are associated with essential hypertension and blood pressure. Methods We studied 194 untreated hypertensive adults and 191 normotensive control individuals. Genotypes were determined by polymerase chain reaction–restriction fragment length polymorphism. Logistic regression evaluated hypertension risk, and linear regression assessed systolic and diastolic blood pressure (BP) under genotypic, dominant, and additive models, with adjustment for clinical covariates; the false discovery rate was controlled. Results The STK39 rs35929607 G allele was associated with hypertension (adjusted odds ratio [OR], 1.97 [95% CI, 1.21-3.21]; P = .007) and higher systolic BP (+8.02 mm Hg per G allele, 95% CI, 2.18-13.87; P = .007). Effects on diastolic BP were weaker (additive P = .10; dominant P = .06). ATP2B1 rs2681472 showed no statistically significant associations (hypertension per T allele OR, 1.18 [95% CI, 0.74-1.87]; P = .49). In sex-stratified analyses, STK39 associations were evident in men (hypertension OR, 3.22 [95% CI, 1.42-7.31]; P = .005; systolic BP, +15.88 mm Hg [95% CI, 5.95-25.80]; P = .002) but not in women. Discussion In our study cohort, STK39 rs35929607 is associated with essential hypertension and higher systolic BP, with possible sex-specific effects. ATP2B1 rs2681472 is not associated with hypertension or BP traits.