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多基因疾病性状的遗传相关性:从理论到实践。

Genetic correlations of polygenic disease traits: from theory to practice.

机构信息

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands.

Department of Psychiatry, Amsterdam UMC, VU University Medical Center, Amsterdam, Netherlands.

出版信息

Nat Rev Genet. 2019 Oct;20(10):567-581. doi: 10.1038/s41576-019-0137-z.

Abstract

The genetic correlation describes the genetic relationship between two traits and can contribute to a better understanding of the shared biological pathways and/or the causality relationships between them. The rarity of large family cohorts with recorded instances of two traits, particularly disease traits, has made it difficult to estimate genetic correlations using traditional epidemiological approaches. However, advances in genomic methodologies, such as genome-wide association studies, and widespread sharing of data now allow genetic correlations to be estimated for virtually any trait pair. Here, we review the definition, estimation, interpretation and uses of genetic correlations, with a focus on applications to human disease.

摘要

遗传相关描述了两个性状之间的遗传关系,可以帮助更好地理解它们之间共享的生物学途径和/或因果关系。具有记录的两个性状(特别是疾病性状)实例的大型家族队列的稀有性使得使用传统的流行病学方法很难估计遗传相关性。然而,基因组学方法的进步,例如全基因组关联研究,以及数据的广泛共享,现在使得几乎可以对任何性状对进行遗传相关性的估计。在这里,我们回顾了遗传相关性的定义、估计、解释和用途,重点介绍了其在人类疾病中的应用。

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