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[复杂疾病:遗传学的重要性]

[Complex diseases: the importance of genetics].

作者信息

Libioulle C, Bours V

机构信息

Assistant Hospitalier Scientifique, Centre de Génétique, CHU de Liège, Belgique.

出版信息

Rev Med Liege. 2012 May-Jun;67(5-6):220-5.

Abstract

Complex diseases usually harbour hereditary factors linked with multiple susceptibility genes. The additive effects of genetic and environmental factors are responsible for the pathology. The impact of heredity has been demonstrated through family studies, but also, and mostly, through the study of adopted people and twins. Recently, genome wide association studies (GWAS) allowed the identification of many susceptibility genes for most complex diseases. However, a large part of the heritability is still missing, probably because of insufficient exploration of rare genetic variants and/or epigenetic factors. The ultimate goal of these genetic studies is the definition of an individual risk leading to specific preventive measures (model "predict and prevent"), but this purpose remains very remote for the majority of complex diseases.

摘要

复杂疾病通常含有与多个易感基因相关的遗传因素。遗传和环境因素的累加效应导致了病理变化。遗传的影响已通过家族研究得到证实,但也主要通过对收养者和双胞胎的研究得以体现。最近,全基因组关联研究(GWAS)使得人们能够识别出大多数复杂疾病的许多易感基因。然而,很大一部分遗传力仍然未知,这可能是由于对罕见遗传变异和/或表观遗传因素的探索不足。这些遗传学研究的最终目标是确定个体风险,从而采取特定的预防措施(“预测并预防”模式),但对于大多数复杂疾病而言,这一目标仍相距甚远。

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