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.


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 (OR(adjusted)=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).


CONCLUSIONS
We conclude that haplotype in ATP1B1 may confer susceptibility to BP regulation and hypertension in this Chinese population.
Xiao
Bing
B
State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Zhang
Yi
Y
Niu
Wenquan
W
Gao
Pinjing
P
Zhu
Dingliang
D
D044466:Asian People / Q000235:genetics*; D001794:Blood Pressure / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
C503551:ATP1B1 protein, human; D000254:Sodium-Potassium-Exchanging ATPase