Amouyel P
INSERM CJF 95-05, service d'épidémiologie et de Santé publique, Institut Pasteur de Lille.
Arch Mal Coeur Vaiss. 1998 Sep;91 Suppl:13-8.
A family history of cardiovascular disease is an important factor in the evaluation of a given individual's cardiovascular risk. The determination of this factor may be congenital or acquired. Behavioural modes common to members of the same family may increase predisposition to cardiovascular disease at an early age and thereby simulate a genetic risk factor. However, a genetic component of cardiovascular risk has been demonstrated, mainly thanks to twin studies. It is a multigenic factor. Contrary to monogenic diseases in which rare mutations of a single gene will, with a high relative risk, produce a rare disease, in the case of multigenic diseases, several genes which have frequent mutations will, with a low relative risk related to each gene, interact to cause a common disease. Thus, the family history of cardiovascular disease covers a large number of common mutations or polymorphisms, the detection of which has been greatly facilitated by the explosion of modern techniques of molecular biology over the last few years. The dissection of these factors of genetic predisposition help the understanding of the risk of cardiovascular disease and the interaction between genetic and environmental factors. The analysis of these factors may, in the future, enable understanding of the variability of expression of certain environmental factors and help achieve a more global approach to the evaluation of cardiovascular risk. At present, this evaluation of genetic factors of predisposition remains in the field of fundamental research and of clinical and therapeutic trials.
心血管疾病家族史是评估个体心血管风险的一个重要因素。该因素的确定可能是先天性的，也可能是后天获得的。同一家庭成员共有的行为模式可能会增加早年患心血管疾病的易感性，从而模拟出一种遗传风险因素。然而，心血管风险的遗传成分已得到证实，这主要归功于双胞胎研究。它是一个多基因因素。与单基因疾病不同，单基因疾病中单个基因的罕见突变会以较高的相对风险导致一种罕见疾病，而在多基因疾病的情况下，几个有频繁突变的基因会以与每个基因相关的较低相对风险相互作用，从而引发一种常见疾病。因此，心血管疾病家族史涵盖了大量常见的突变或多态性，过去几年现代分子生物学技术的迅猛发展极大地促进了对这些突变或多态性的检测。对这些遗传易感性因素的剖析有助于理解心血管疾病的风险以及遗传和环境因素之间的相互作用。对这些因素的分析在未来可能会有助于理解某些环境因素表达的变异性，并有助于实现对心血管风险评估的更全面方法。目前，这种对遗传易感性因素的评估仍处于基础研究以及临床和治疗试验领域。
