Association of ATP1B1 single-nucleotide polymorphisms with blood pressure and hypertension in a Chinese population

Background: ATP1B1 encodes the beta subunits of Na/K ATPase which plays an important role in maintaining the normal gradients of Na+ and K+ across plasma membrane. A recent study demonstrated an association of ATP1B1 genetic variations with blood pressure (BP) in Americans. We aimed to investigate the association between ATP1B1 polymorphisms with BP and hypertension in a Chinese population. Material and methods: Twelve tag single-nucleotide polymorphisms (SNPs) of ATP1B1 were genotyped in 906 patients with essential hypertension (EH) and 894 normotensives (NT). Results: None of the selected SNPs was associated with hypertension. However, an overall significant association of haplotypes containing rs1200131, rs1200137, rs3766032, rs3766039 and rs2982468 with hypertension was observed (p = 0.032). A common haplotype (G-T-A-C-T) was associated with an increased risk for hypertension (ORadjusted = 1.717, p = 0.033). In NT subjects, rs3766032AA carriers had lower systolic BP (SBP) and diastolic BP (DBP) than AG/GG carriers (SBP, 112.6 +/- 10.0 mmHg vs. 115.5 +/- 10.6 mmHg, P < 0.05; DBP, 75.1 +/- 6.8 mmHg vs. 76.8 +/- 6.0 mmHg, p < 0.05), and rs2982468 TT carriers had lower DBP than AT/AA carriers (74.8 +/- 6.9 mmHg vs. 76.3 +/- 6.2 mmHg: p < 0.01) after correction. In NT subjects. BP showed an overall significant association with haplotypes (p = 0.006. for SBP and p = 0.036, for DBP). Conclusion: We conclude that haplotype in ATP1B1 may confer susceptibility to BP regulation and hypertension in this Chinese population. (c) 2009 Elsevier B.V. All rights reserved.