Sex and gender differences affect all dimensions of human health ranging from the biological basis of disease to therapeutic access, choice and response. Genomics research has long ignored the role of sex differences as potential modulators and the concept is gaining more attention only recently. In the present review we summarize the current knowledge of the impact of sex differences on genomic and epigenomic research, the potential interaction of genomics and gender and the role of these differences in disease etiopathogenesis. Sex differences can emerge from differences in the sex chromosomes themselves, from their interaction with the genome and from the influence of hormones on genomic processes. The impact of these processes on the incidence of autoimmune and oncologic disease is well documented. The growing field of systems biology, which aims at integrating information from different networks of the human body, could also greatly benefit from this approach. In the present review we summarize the current knowledge and provide recommendations for the future performance of sex-sensitive genomics research.

性别差异影响人类健康的各个方面，从疾病的生物学基础到治疗途径，选择和反应。基因组学研究长期以来一直忽略性别差异作为潜在调节剂的作用，并且这一概念直到最近才得到更多关注。在本综述中，我们总结了性别差异对基因组和表观基因组研究的影响，基因组学和性别之间潜在的相互作用以及这些差异在疾病发病机制中的作用的当前知识。性别差异可能来自性染色体本身的差异，它们与基因组的相互作用以及激素对基因组过程的影响。这些过程对自身免疫和肿瘤疾病发生率的影响已得到充分证明。系统生物学的发展领域，旨在整合来自人体不同网络的信息的方法也可以从该方法中受益匪浅。在本综述中，我们总结了当前的知识，并为对性别敏感的基因组学研究的未来表现提供了建议。