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一项病例对照研究为 PDGFD 中常见 SNP rs974819 与冠心病之间的关联提供了证据,并提示存在性别依赖性效应。

A case-control study provides evidence of association for a common SNP rs974819 in PDGFD to coronary heart disease and suggests a sex-dependent effect.

机构信息

Ningbo Medical Center, Lihuili hospital, Ningbo University, Ningbo, Zhejiang 315041, China.

出版信息

Thromb Res. 2012 Oct;130(4):602-6. doi: 10.1016/j.thromres.2012.05.023. Epub 2012 Jun 15.

DOI:10.1016/j.thromres.2012.05.023
PMID:22704460
Abstract

INTRODUCTION

Peden et al. have revealed a significant association between four new risk loci and coronary heart disease (CHD) in Europeans and South Asians. The goal of this study is to evaluate the contribution of these genetic loci to CHD risk in Han Chinese.

METHODS

We recruited 161 CHD patients and 112 controls proved by angiography originated from Ningbo in the Eastern China, and performed a case-control association study of the four significant SNPs.

RESULTS

Among the four tested SNPs, we found a significant association of rs974819 in PDGFD gene with CHD (allele p=0.04; OR=1.45, 95% CI=1.02 - 2.08) and the allele A/G of rs974819 shows significant difference in females (allele p=0.04; OR=1.83, 95% CI=1.01 - 3.31). A further meta-analysis showed that rs974819 of PDGFD gene was significantly associated with an increasing risk of CHD (OR=1.08, 95% CI=1.05 - 1.11) in both Europeans and South Asians including Han Chinese.

CONCLUSIONS

Our findings suggests that rs974819 of PDGFD is also a CHD risk factor in Han Chinese. In addition, it presents a sex-dependent genetic effect.

摘要

简介

Peden 等人揭示了四个新的风险基因座与欧洲人和南亚人冠心病(CHD)之间的显著关联。本研究的目的是评估这些遗传基因座对中国汉族人群 CHD 风险的贡献。

方法

我们招募了 161 名经血管造影证实的来自中国东部宁波的 CHD 患者和 112 名对照者,并对这四个显著 SNP 进行了病例对照关联研究。

结果

在四个测试的 SNP 中,我们发现 PDGFD 基因中的 rs974819 与 CHD 显著相关(等位基因 p=0.04;OR=1.45,95%CI=1.02-2.08),并且 rs974819 的等位基因 A/G 在女性中存在显著差异(等位基因 p=0.04;OR=1.83,95%CI=1.01-3.31)。进一步的荟萃分析表明,PDGFD 基因的 rs974819 与欧洲人和南亚人(包括汉族人)的 CHD 风险增加显著相关(OR=1.08,95%CI=1.05-1.11)。

结论

我们的研究结果表明,PDGFD 的 rs974819 也是汉族人群 CHD 的一个风险因素。此外,它表现出性别依赖的遗传效应。

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