将基因组分析转化为冠状动脉疾病的优化管理。

Translating genomic analyses into improved management of coronary artery disease.

作者信息

Johansen Christopher T, Lanktree Matthew B, Hegele Robert A

机构信息

Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, University of Western Ontario, London, ON N6A 5K8, Canada.

出版信息

Future Cardiol. 2010 Jul;6(4):507-21. doi: 10.2217/fca.10.28.

DOI:10.2217/fca.10.28

PMID:20608823

Abstract

Human genetic variation can modulate pathophysiologic processes that alter susceptibility to complex disease. Recent genomic analyses have sought to identify how common genetic variation alters susceptibility to coronary artery disease (CAD). From genome-wide association studies (GWAS), common genetic variants in several novel chromosomal loci have been associated with CAD. GWAS identified the 9p21 locus as the strongest independent genetic CAD risk factor, along with 11 additional loci that harbor common genetic variants associated with increased CAD risk. A thorough understanding of human genetic variation and genomic analyses will be crucial to understand how GWAS-identified loci increase susceptibility to CAD. This article outlines the relevance of genetic variation in the elucidation of novel CAD risk factors and the clinical utility of genetic variants in the management and treatment of CAD.

摘要

人类遗传变异可调节改变复杂疾病易感性的病理生理过程。近期的基因组分析试图确定常见遗传变异如何改变冠状动脉疾病（CAD）的易感性。通过全基因组关联研究（GWAS），几个新的染色体位点上的常见遗传变异已与CAD相关联。GWAS确定9p21位点是最强的独立遗传CAD风险因素，另外还有11个位点含有与CAD风险增加相关的常见遗传变异。深入了解人类遗传变异和基因组分析对于理解GWAS确定的位点如何增加CAD易感性至关重要。本文概述了遗传变异在阐明新的CAD风险因素中的相关性以及遗传变异在CAD管理和治疗中的临床应用。