Acute myocardial infarction
Acute myocardial infarction
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DOI：
10.1145/3234698.3234741
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发表时间：
2018-06
期刊：
影响因子：
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通讯作者：
S. Mehri;W. Khamlaoui;M. Hammami
中科院分区：
文献类型：
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作者：
S. Mehri;W. Khamlaoui;M. Hammami
急性心肌梗死（AMI）是世界范围内死亡和残疾的主要原因，尽管在过去的十年中诊断有了很大的改进。急性心肌梗死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之间相互作用的结果。疾病预防是降低AMI总体负担的重要策略，识别疾病风险标志物是风险预测和潜在干预的关键，以减少未来事件的机会。大量的候选基因和全基因组关联研究已经在AMI中进行，已经鉴定了少数具有有限作用的调节遗传变异。然而，这些基因的变体影响疾病的病理生理学的机制是未知的。这一现象可以部分地解释可能的基因/基因上位性相互作用，很少研究到目前为止。人们曾多次尝试利用遗传学研究的结果来建立基因图谱，但它们在预测个人风险方面的价值非常有限。由于MI的高发病率和严重性，通过了解其发展所涉及的机制来定义这些疾病至关重要。此外，还需要更多的遗传研究来绘制和识别其他致病基因。
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.