Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.
Institute for Genomics and Systems Biology, University of Chicago, Chicago, IL, USA.
Nat Rev Genet. 2019 Mar;20(3):173-190. doi: 10.1038/s41576-018-0083-1.
Nearly all human complex traits and disease phenotypes exhibit some degree of sex differences, including differences in prevalence, age of onset, severity or disease progression. Until recently, the underlying genetic mechanisms of such sex differences have been largely unexplored. Advances in genomic technologies and analytical approaches are now enabling a deeper investigation into the effect of sex on human health traits. In this Review, we discuss recent insights into the genetic models and mechanisms that lead to sex differences in complex traits. This knowledge is critical for developing deeper insight into the fundamental biology of sex differences and disease processes, thus facilitating precision medicine.
几乎所有人类复杂特征和疾病表型都表现出一定程度的性别差异，包括患病率、发病年龄、严重程度或疾病进展的差异。直到最近，这些性别差异的潜在遗传机制在很大程度上还未被探索。基因组技术和分析方法的进步现在使我们能够更深入地研究性别对人类健康特征的影响。在这篇综述中，我们讨论了最近对导致复杂特征性别差异的遗传模型和机制的深入了解。这些知识对于深入了解性别差异和疾病过程的基本生物学，从而促进精准医学，至关重要。
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