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补体因子H基因的遗传变异与早发性冠心病无关:爱尔兰人群的一项基于家族的研究。

Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population.

作者信息

Meng Weihua, Hughes Anne, Patterson Chris C, Belton Christine, Kamaruddin Muhammad S, Horan Paul G, Kee Frank, McKeown Pascal P

机构信息

Centre for Clinical and Population Sciences, Queen's University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK.

出版信息

BMC Med Genet. 2007 Sep 18;8:62. doi: 10.1186/1471-2350-8-62.

DOI:10.1186/1471-2350-8-62
PMID:17877809
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2048938/
Abstract

BACKGROUND

The complement factor H (CFH) gene has been recently confirmed to play an essential role in the development of age-related macular degeneration (AMD). There are conflicting reports of its role in coronary heart disease. This study was designed to investigate if, using a family-based approach, there was an association between genetic variants of the CFH gene and risk of early-onset coronary heart disease.

METHODS

We evaluated 6 SNPs and 5 common haplotypes in the CFH gene amongst 1494 individuals in 580 Irish families with at least one member prematurely affected with coronary heart disease. Genotypes were determined by multiplex SNaPshot technology.

RESULTS

Using the TDT/S-TDT test, we did not find an association between any of the individual SNPs or any of the 5 haplotypes and early-onset coronary heart disease.

CONCLUSION

In this family-based study, we found no association between the CFH gene and early-onset coronary heart disease.

摘要

背景

补体因子H(CFH)基因最近已被证实与年龄相关性黄斑变性(AMD)的发生发展密切相关。关于其在冠心病中的作用,报道存在矛盾。本研究旨在采用基于家系的方法,探讨CFH基因的遗传变异与早发性冠心病风险之间是否存在关联。

方法

我们对580个爱尔兰家庭中至少有一名成员过早患冠心病的1494名个体的CFH基因中的6个单核苷酸多态性(SNP)和5种常见单倍型进行了评估。通过多重SNaPshot技术确定基因型。

结果

使用传递不平衡检验(TDT)/家系传递不平衡检验(S-TDT),我们未发现任何单个SNP或5种单倍型中的任何一种与早发性冠心病之间存在关联。

结论

在这项基于家系的研究中,我们发现CFH基因与早发性冠心病之间无关联。

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Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study.一项大规模重复研究中急性冠状动脉综合征报告的遗传风险因素未得到验证。
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