基于单体型的人类 AGTR1 基因与汉族原发性高血压的病例-对照研究。
Haplotype-based case-control study of the human AGTR1 gene and essential hypertension in Han Chinese subjects.
机构信息
Human Genetics Center of Yunnan University, #2 N. Cuihu Rd. Kunming, Yunnan 650091 PR China.
出版信息
Clin Biochem. 2010 Feb;43(3):253-8. doi: 10.1016/j.clinbiochem.2009.09.027. Epub 2009 Oct 13.
OBJECTIVES
Essential hypertension is considered to be a multifactorial trait resulting from the combined influence of environmental and genetic determinants. The aim of the study is to assess the association between the human AGTR1 gene and essential hypertension (EH) using a haplotype-based case-control study in Han Chinese subjects.
DESIGN AND METHODS
Seven tag SNPs and the A1166C polymorphism of the AGTR1 gene were genotyped in 510 hypertension subjects and 510 normotensive subjects using PCR-RFLP method.
RESULTS
Single SNP analyses indicated that the rs12695895 was significantly associated with hypertension, adjusted for covariates. Compared with the other haplotypes, Hap4 (AGGACTT) which carry the susceptible rs12695895 A allele was found to significantly increase the risk of EH with odds ratios equal to 1.84 (p=0.0002).
CONCLUSIONS
The present results indicate that rs12695895 might be a genetic marker for EH and Hap4 (AGGACTT) was associated with hypertension in Han Chinese population.
目的
原发性高血压被认为是一种多因素特征，由环境和遗传决定因素的共同影响所致。本研究旨在通过对汉族人群进行基于单体型的病例对照研究，评估人类 AGTR1 基因与原发性高血压（EH）之间的关联。
设计和方法
采用 PCR-RFLP 法对 510 例高血压患者和 510 例血压正常者的 AGTR1 基因的 7 个标签 SNP 和 A1166C 多态性进行基因分型。
结果
单 SNP 分析表明，在调整协变量后，rs12695895 与高血压显著相关。与其他单体型相比，携带易感 rs12695895 A 等位基因的 Hap4（AGGACTT）明显增加了 EH 的风险，比值比等于 1.84（p=0.0002）。
结论
本研究结果表明，rs12695895 可能是 EH 的遗传标记，Hap4（AGGACTT）与汉族人群的高血压有关。
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