醛糖还原酶C-106T基因多态性的种族差异及其与原发性高血压的关联
Racial difference in aldose reductase C-106T genetic polymorphism and association with essential hypertension.
作者信息
Li Ling, Li Zhenyu, Cheng Huanlian, Yan Jin, Hu Kai, Wang Junjie, Deng Xiaolan, Ye Qifa, Ouyang Dongsheng
机构信息
Institute of Clinical Pharmacology, Central South University, Changsha, China.
出版信息
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2012 Feb;37(2):156-60. doi: 10.3969/j.issn.1672-7347.2012.02.008.
OBJECTIVE
To investigate the distribution of aldose reductase (AR) C-106T genetic polymorphism in Chinese Han population and its association with the risk for essential hypertension (EH).
METHODS
The AR C-106T polymorphism was genotyped in 148 Chinese EH patients and 137 controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotype distribution between groups was contrasted by Χ(2)- test and the degree of genetic association was evaluated by 95% confidence interval (CI).
RESULTS
Frequency of the variant AR C-106T allele was 13.9% (95% CI: 11.2%-16.6%) in the controls, which was significantly lower than that in the Japanese (18.4% in 712 individuals, P=0.0063), the Australians (37.9% in 240 individuals, P<0.0001) and the Brazilians (34.7% in 62 individuals, P<0.0001). The frequency of AR C-106T allele was 11.7% (95% CI: 7.9%-15.5%) in the EH patients. No significant difference in the allele frequency was observed between the EH patients and the controls (P=0.147).
CONCLUSION
There is obvious racial difference in the distribution of AR C-106T polymorphism. The polymorphism is not associated with the risk for EH.
目的
探讨醛糖还原酶（AR）C-106T基因多态性在中国汉族人群中的分布及其与原发性高血压（EH）风险的关系。
方法
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对148例中国EH患者和137例对照者的AR C-106T多态性进行基因分型。采用χ²检验比较两组间的基因型分布，并通过95%置信区间（CI）评估遗传关联程度。
结果
对照组中AR C-106T变异等位基因频率为13.9%（95%CI：11.2%-16.6%），显著低于日本人（712例中为18.4%，P=0.0063）、澳大利亚人（240例中为37.9%，P<0.0001）和巴西人（62例中为34.7%，P<0.0001）。EH患者中AR C-106T等位基因频率为11.7%（95%CI：7.9%-15.5%）。EH患者与对照组之间等位基因频率无显著差异（P=0.147）。
结论
AR C-106T多态性分布存在明显的种族差异。该多态性与EH风险无关。
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