冠状动脉粥样硬化性心脏病的遗传易感性

目的:概述冠状动脉粥样硬化性心脏病(简称冠心病)遗传易感性的研究进展,探讨冠心病的分子遗传学基础。资料来源:检索Pubmed及English Medical Current Contents(EMCC)数据库1990-01/2006-06关于冠心病分子遗传学研究的文献,检索词为“coronary artery disease,myocardial infarction,gene”。同时检索Chinese Medical Current Contents(CMCC)数据库2000-01/2006-06相关中文文献。资料选择:对检索结果进行初审,选取冠心病分子遗传学研究方面的信息进行整理,筛除明显不相关的或针对性不强的文章。资料提炼:进一步分析所选文献,收集整理关于冠心病和心肌梗死遗传易感性方面针对强且又可靠的文章49篇。资料综合:参考的49篇文章表明,冠心病是一种多病因、多因素的复杂疾病,其发病受复杂的环境因素及遗传因素的影响。遗传学基础在冠心病的发生发展中起着至关重要的作用。近年来,作为人类遗传学的核心技术,全基因组关联分析及大规模病例对照相关研究鉴定了一些与冠心病易感性相关的重要基因,这些基因涉及到血脂异常、内皮完整性、炎性因子的表达及免疫反应等方面。结论:易感基因或致病基因的检测为冠心病的发病机制研究提供了新的线索,这将有利于冠心病及心肌梗死的早期诊断、早期预防及特定基因个性化治疗。

Genetic susceptibility to coronary artery disease

OBJECTIVE: To summarize the advances in the genetic susceptibility to coronary artery disease (CAD) and explore the heritable basis of the disease.DATA SOURCES:Related articles in English from January 1990 to June 2006 were searched in Pubmed and EMCC databases with the terms "gene, coronary artery disease and myocardial infarction". Meanwhile, the CMCC database was searched for the relevant articles published between January 2000 and June 2006 in Chinese.STUDY SELECTrON: After the preliminary selection,relevant literatures on genetics of CAD and myocardial infarction(MI)were selected, and those with obvious indifferent contents or with less correlation were excluded.DATA EXTRACTION: Data of 49 articles were mainly extracted from the selected literatures providing solid evidence to elucidate the genetic susceptibility to CAD or MI.DATA SYNTHESIS: The involved 49 articles showed that CAD is a complex multifactorial disorder which is believed to result from the interplay between a person's genetic makeup and various environmental factors. The heritable basis is increasingly recognized as a crucial component in the development of CAD. Recent work in the field of genetics has lead to determining key genes associated with the susceptibility for CAD and MI through genome-wide linkage scans and large-scale gene-association studies as core human genetics approaches These susceptibility genes involve diverse functions, including dyslipidemia, vascular homeostasis, endothelial dysfunction, inflammation and immunity.CONCLUSION: The identification of genes that predispose to or directly cause CAD provides new insights into the pathogenesis of this disorder. However, the precise role of genetic factor in the CAD or MI events and the personalized gene-specific therapy await further investigation.