噻嗪类-敏感的钠-氯协同转运蛋白基因多态性与原发性高血压的关系

Association of thiazide-sensitive Na^＋ -Cl^- cotransporter gene polymorphisms with the risk of essential hypertension

目的探讨噻嗪类-敏感的钠-氯协同转运蛋白（thiazide-sensitive Na＋-Cl-cotransporter,TSC）基因1784C/T和2736G/A多态性与中国汉族人群原发性高血压（essential hypertension,EH）发病风险的关系。方法采用以社区为基础的病例-对照研究,选择190例EH患者和94名血压正常的对照者作为研究对象。用基因芯片方法检测TSC基因1784C/T和2736AG/位点的基因型,比较EH组和对照组基因型和等位基因分布频率的差异。结果在EH组和对照组1784C/T和2736G/A多态位点的基因型（1784C/TCC、CT、TT：87、88、15vs36、52、6;2736G/AGG、AG、AA：167、22、1vs83、10、1）和等位基因频率（1784C/TC、T：68.9%、31.1%vs66.0%、34.0%;2736G/AG、A：93.7%、6.3%vs93.6%、6.4%）差异均无统计学意义（P〉0.05）;单倍型分析显示1784C/T和2736G/A多态性构成的各单倍型分布频率差异无统计学意义（P〉0.05）,单倍型Logistic回归模型发现携带不同单倍型的人群EH发病风险亦无统计学意义（P〉0.05）。结论TSC基因1784C/T和2736G/A多态性可能与我国汉族人群EH发病风险不相关,其结果需在今后的研究中进一步证实。

Objective To investigate the association of thiazide-sensitive Na^＋ -Cl^- cotransporter （TSC） gene 1784C/T and 2736G/A polymorphisms with the risk of essential hypertension （EH） in a Han nationality population. Methods A community-based, case-control study including 190 EH patients and 94 sex- and age-matched controls was conducted. Genotypes of TSC gene 1784C/T and 2736G/A polymorphisms were analyzed by gene chip technology. Resuits The genotype （1784C/T CC,CT,TY：87,88,15 vs 36,52,6;2736G/A GG,AG,AA：167,22,1 vs 83,10,1） and alleles frequency （1784C/T C, T：68.9%, 31.1% vs 66.0%, 34.0%; 2736G/A G,A：93.7%, 6.3% vs 93.6%, 6.4% ）distribution of 1784C/T and 2736G/A showed no significant difference between the EH group and the control group （P 〉 0.05）. Moreover, no significant difference was observed in the frequencies distribution of four haplotypes （ P 〉 0.05） ; Logistic regression analysis of haplotypes showed that the risk of EH had no significant difference in the population with different haplotypes （ P 〉 0.05）. Concluison The 1784C/T and 2736G/A polymorphisms of TSC gene may not play an important role in the etiology of EH in a Han nationality population. The studies in the future are warranted to vahdate our findings.