急性心肌梗死

S. Mehri, W. Khamlaoui, M. Hammami
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摘要

急性心肌梗死(AMI)仍然是世界范围内死亡和残疾的主要原因,尽管在过去十年中诊断有了实质性的改进。AMI从一种主要在发达国家流行的疾病,现在在发展中国家变得越来越普遍。AMI是一种多因素疾病,被认为是遗传背景和环境因素相互作用的结果。疾病预防是减轻AMI总体负担的重要策略,疾病风险标志物的识别是风险预测和潜在干预以减少未来事件发生机会的关键。许多候选基因和全基因组关联研究已经对AMI进行了研究,已经确定了少数具有有限影响的调节遗传变异。然而,这些基因变异影响疾病病理生理的机制尚不清楚。这一现象可以部分解释为可能的基因-基因/上位性相互作用,迄今为止很少研究。许多人试图利用基因研究的结果来建立基因档案,但它们在预测个人风险方面的价值非常有限。由于心肌梗死的高发病率和严重性,通过了解其发展机制来定义这些疾病至关重要。此外,需要更多的基因研究来绘制和识别其他致病基因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Acute myocardial infarction
Acute myocardial infarction (AMI) remains a leading cause of death and disability worldwide despite substantial improvements in diagnosis over the past decade. From being an illness prevalent predominantly in developed countries, AMI is now becoming increasingly more common in developing countries. AMI is a multifactorial disorder that is thought to result from an interaction between genetic background and environmental factors. Disease prevention is an important strategy for reducing the overall burden of AMI, and the identification of markers for disease risk is the key both for risk prediction and for potential intervention to reduce the chance of future events. Numerous candidate gene and genome-wide association studies have been performed on AMI, a small number of regulating genetic variants having a limited effect have been identified. However the mechanisms by which the variants of these genes influence the pathophysiology of disease are unknown. This phenomenon can partially be explained by possible gene-gene/epistasis interactions that were little investigated so far. Many attempts have been made to develop genetic profiles using the results of the genetic studies, but their value was very limited for predicting personal risk. Due to the high incidence and gravity of MI, it is of vital importance to define these diseases by understanding the mechanisms involved in their development. Moreover, more genetic studies are needed to map and identify other disease-causing genes.
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