人类疾病的性别特异性遗传结构。
Sex-specific genetic architecture of human disease.
作者信息
Ober Carole, Loisel Dagan A, Gilad Yoav
机构信息
Department of Human Genetics, 920 East 58th Street, The University of Chicago, Chicago, Illinois 60637, USA.
出版信息
Nat Rev Genet. 2008 Dec;9(12):911-22. doi: 10.1038/nrg2415.
Abstract
Sexual dimorphism in anatomical, physiological and behavioural traits are characteristics of many vertebrate species. In humans, sexual dimorphism is also observed in the prevalence, course and severity of many common diseases, including cardiovascular diseases, autoimmune diseases and asthma. Although sex differences in the endocrine and immune systems probably contribute to these observations, recent studies suggest that sex-specific genetic architecture also influences human phenotypes, including reproductive, physiological and disease traits. It is likely that an underlying mechanism is differential gene regulation in males and females, particularly in sex steroid-responsive genes. Genetic studies that ignore sex-specific effects in their design and interpretation could fail to identify a significant proportion of the genes that contribute to risk for complex diseases.
摘要
解剖学、生理学和行为特征方面的性别二态性是许多脊椎动物物种的特点。在人类中，许多常见疾病的患病率、病程和严重程度也存在性别二态性，包括心血管疾病、自身免疫性疾病和哮喘。虽然内分泌和免疫系统的性别差异可能导致了这些现象，但最近的研究表明，性别特异性的遗传结构也会影响人类表型，包括生殖、生理和疾病特征。一种潜在机制可能是男性和女性存在差异基因调控，尤其是在对性类固醇有反应的基因中。在设计和解释中忽略性别特异性影响的遗传学研究可能无法识别出很大一部分导致复杂疾病风险的基因。
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