INSERM UMRs 1097 Arthrites Autoimmunes, Aix Marseille Université, Marseille, France.
Nat Rev Rheumatol. 2019 Nov;15(11):673-686. doi: 10.1038/s41584-019-0307-6. Epub 2019 Oct 9.
Rheumatic diseases affect a wide range of individuals of all ages, but the most common diseases occur more frequently in women than in men, at ratios of up to ten women to one man. Despite a growing number of studies on sex bias in rheumatic diseases, sex-specific health care is limited and sex specificity is not systematically integrated into treatment regimens. Women and men differ in three major biological points: the number of X chromosomes per cell, the type and quantities of sex hormones present and the ability to be pregnant, all of which have immunological consequences. Could a greater understanding of these differences lead to a new era of personalized sex-specific medicine? This Review focuses on the main genetic and epigenetic mechanisms that have been put forward to explain sex bias in rheumatic diseases, including X chromosome inactivation, sex chromosome aneuploidy and microchimerism. The influence of sex hormones is not discussed in detail in this Review, as it has been well described elsewhere. Understanding the sex-specific factors that contribute to the initiation and progression of rheumatic diseases will enable progress to be made in the diagnosis, treatment and management of all patients with these conditions.
风湿性疾病影响着各个年龄段的广泛人群，但最常见的疾病在女性中的发病率比男性更高，比例高达十比一。尽管越来越多的研究关注风湿性疾病中的性别偏见，但针对特定性别的医疗保健仍然有限，且性别特异性并未系统地纳入治疗方案中。女性和男性在三个主要生物学方面存在差异：每个细胞中的 X 染色体数量、存在的性激素类型和数量以及怀孕的能力，所有这些都具有免疫学后果。对这些差异的更深入了解是否会引领一个个性化的、针对特定性别的医学新时代？这篇综述重点介绍了已提出的用于解释风湿性疾病中性别偏见的主要遗传和表观遗传机制，包括 X 染色体失活、性染色体非整倍体和微嵌合体。本综述没有详细讨论性激素的影响，因为这在其他地方已有很好的描述。了解导致风湿性疾病发生和进展的性别特异性因素，将有助于在这些疾病的诊断、治疗和管理方面取得进展。
