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PPARγ C681G和内含子CT变异的单倍型分析。与原发性高血压呈正相关。

Haplotype analysis of PPARγ C681G and intron CT variants. Positive association with essential hypertension.

作者信息

Zhu Q, Guo Z, Hu X, Wu M, Chen Q, Luo W, Liu J

机构信息

Department of Epidemiology, School of Public Health, Medical College of Soochow University, 215123, SuZhou, JiangSu, China.

出版信息

Herz. 2014 Mar;39(2):264-70. doi: 10.1007/s00059-013-3819-x. Epub 2013 May 9.

Abstract

BACKGROUND

There is strong evidence suggesting an association between the peroxisome-activated receptor γ (PPARγ) gene and multimetabolic disorders. The association of PPARγ genetic variants with essential hypertension (EH) has not yet been investigated. The aim of this study was to investigate the association between the PPARγ gene (C681G and intron CT) and EH, examining the polymorphism and haplotype in a Han Chinese population.

METHODS

Participants were recruited within the framework of the PMMJS cohort population survey in an urban community of Jiangsu Province, China. Two single-nucleotide polymorphisms (SNPs) previously reported to be associated with multimetabolic disorders and the reasonable coverage of the PPARγ gene region were analyzed with TaqMan SNP genotyping assays.

RESULTS

C681G and intron CT were significantly associated with an increased risk of EH both in the codominant model and the dominant model after adjusting for potential nongenetic risk factors. Analysis of the haplotype association revealed that the risk of EH was significantly increased among individuals carrying the GC (odds ratio, 95 % CI: 1.60, 1.21-2.11), CT (1.45, 1.03-2.11), and GT haplotypes (1.95, 1.17-3.23) compared with those carrying the CC haplotype.

CONCLUSION

The polymorphisms of C681G and intron CT were significantly associated with the risk of EH, and the GC, CT, and GT haplotypes established by C681G and intron CT are likely to be genetic markers of EH in the Han Chinese population.

摘要

背景

有强有力的证据表明过氧化物酶体增殖物激活受体γ(PPARγ)基因与多种代谢紊乱之间存在关联。PPARγ基因变异与原发性高血压(EH)的关联尚未得到研究。本研究的目的是调查PPARγ基因(C681G和内含子CT)与EH之间的关联,检测中国汉族人群中的多态性和单倍型。

方法

在中国江苏省一个城市社区的PMMJS队列人群调查框架内招募参与者。使用TaqMan SNP基因分型检测分析了两个先前报道与多种代谢紊乱相关的单核苷酸多态性(SNP)以及PPARγ基因区域的合理覆盖范围。

结果

在调整潜在的非遗传风险因素后,C681G和内含子CT在共显性模型和显性模型中均与EH风险增加显著相关。单倍型关联分析显示,与携带CC单倍型的个体相比,携带GC(优势比,95%可信区间:1.60,1.21 - 2.11)、CT(1.45,1.03 - 2.11)和GT单倍型(1.95,1.17 - 3.23)的个体患EH的风险显著增加。

结论

C681G和内含子CT的多态性与EH风险显著相关,由C681G和内含子CT组成的GC、CT和GT单倍型可能是中国汉族人群中EH的遗传标记。

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