Kessler T, Kaess B, Bourier F, Erdmann J, Schunkert H
Deutsches Herzzentrum München, Klinik für Herz- und Kreislauferkrankungen, Technische Universität München, Lazarettstr. 36, 80636, München, Deutschland.
Herz. 2014 Mar;39(2):186-93. doi: 10.1007/s00059-013-4048-z.
Knowledge about the etiology of coronary artery disease (CAD) entered new dimensions using genome-wide association studies. The current situation is that 46 chromosomal loci have been identified to be associated with CAD with genome-wide significance, i.e. p<5×10(-8), in Western Europeans. As the individual DNA sequence remains unchanged after fertilization, the risk variants cannot occur due to confounders, such as secondary disease processes. Thus, it can be proposed that these variants are directly affecting a primary and thereby causal pathophysiological process in CAD. Interestingly, only 20% of the effects mediated by the identified loci can be explained by the influence of traditional risk factors. This implies that yet unknown mechanisms and, as a consequence, new therapeutic targets play an important role in the pathophysiology of CAD. However, the high allele frequency of risk loci was also surprising. In the diploid chromosome set Western European individuals carry on average 30-50 risk variants at the 46 loci. Considering this, every individual in the population carries a larger or smaller genetic predisposition for CAD. On the other hand it is remarkable that many risk allele carriers seem to be able to compensate the genetic risk: even in old age not everyone suffers from CAD. This indicates yet unknown gene-gene and gene-environment interactions and limits the current possibilities in individual risk prediction.
利用全基因组关联研究,关于冠状动脉疾病(CAD)病因的知识进入了新的维度。目前的情况是,在西欧人中,已确定有46个染色体位点与CAD相关,且具有全基因组显著性,即p<5×10⁻⁸。由于个体的DNA序列在受精后保持不变,风险变异不会因诸如继发性疾病过程等混杂因素而出现。因此,可以提出这些变异直接影响CAD的一个主要的、进而具有因果关系的病理生理过程。有趣的是,已确定位点所介导的效应中,只有20%可由传统风险因素的影响来解释。这意味着未知的机制以及新的治疗靶点在CAD的病理生理学中起着重要作用。然而,风险位点的高等位基因频率也令人惊讶。在西欧个体的二倍体染色体组中,平均在这46个位点携带30 - 50个风险变异。考虑到这一点,人群中的每个人都或多或少携带患CAD的遗传易感性。另一方面,值得注意的是,许多风险等位基因携带者似乎能够补偿遗传风险:即使到了老年,也不是每个人都患有CAD。这表明存在未知的基因 - 基因和基因 - 环境相互作用,并限制了当前个体风险预测的可能性。