中国人群中ATP1B1单核苷酸多态性与血压及高血压的关联

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

作者信息

Xiao Bing, Zhang Yi, Niu Wenquan, Gao Pinjing, Zhu Dingliang

机构信息

State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

出版信息

Clin Chim Acta. 2009 Sep;407(1-2):47-50. doi: 10.1016/j.cca.2009.06.026. Epub 2009 Jun 27.

DOI:10.1016/j.cca.2009.06.026

PMID:19563793

Abstract

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 (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).

CONCLUSION

We conclude that haplotype in ATP1B1 may confer susceptibility to BP regulation and hypertension in this Chinese population.

摘要

背景

ATP1B1编码钠钾ATP酶的β亚基，该亚基在维持跨质膜的钠（+）和钾（+）正常梯度方面发挥重要作用。最近一项研究表明，ATP1B1基因变异与美国人的血压（BP）有关。我们旨在研究中国人群中ATP1B1基因多态性与血压及高血压之间的关联。

材料与方法

对906例原发性高血压（EH）患者和894例血压正常者（NT）进行了ATP1B1的12个标签单核苷酸多态性（SNP）基因分型。

结果

所选的单核苷酸多态性均与高血压无关。然而，观察到包含rs1200131、rs1200137、rs3766032、rs3766039和rs2982468的单倍型与高血压总体存在显著关联（p = 0.032）。一种常见单倍型（G-T-A-C-T）与高血压风险增加相关（校正后OR = 1.717，p = 0.033）。在血压正常者中，校正后rs3766032 AA基因型携带者的收缩压（SBP）和舒张压（DBP）低于AG/GG基因型携带者（SBP：112.6±10.0 mmHg对115.5±10.6 mmHg，p < 0.05；DBP：75.1±6.8 mmHg对76.8±6.0 mmHg，p < 0.05），rs2982468 TT基因型携带者的舒张压低于AT/AA基因型携带者（74.8±6.9 mmHg对76.3±6.2 mmHg；p < 0.01）。在血压正常者中，血压与单倍型总体存在显著关联（SBP的p = 0.006，DBP的p = 0.036）。