Brigham & Women's Hospital Departments of Psychiatry and Medicine, Division of Women's Health, Connors Center for Women's Health & Gender Biology, Boston, Massachusetts; Departments of Psychiatry and Medicine, Harvard Medical School, Boston, Massachusetts; Division of Psychiatric Neuroscience, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts.
Am J Med Genet B Neuropsychiatr Genet. 2013 Oct;162B(7):698-710. doi: 10.1002/ajmg.b.32159.
Although there is a long history to examinations of sex differences in the familial (and specifically, genetic) transmission of schizophrenia, there have been few investigators who have systematically and rigorously studied this issue. This is true even in light of population and clinical studies identifying significant sex differences in incidence, expression, neuroanatomic and functional brain abnormalities, and course of schizophrenia. This review highlights the history of work in this arena from studies of family transmission patterns, linkage and twin studies to the current molecular genetic strategies of large genome-wide association studies. Taken as a whole, the evidence supports the presence of genetic risks of which some are sex-specific (i.e., presence in one sex and not the other) or sex-dependent (i.e., quantitative differences in risk between the sexes). Thus, a concerted effort to systematically investigate these questions is warranted and, as we argue here, necessary in order to fully understand the etiology of schizophrenia.
尽管对精神分裂症的家族（特别是遗传）传递中性别差异的研究已有很长的历史，但很少有研究人员系统而严格地研究过这个问题。即使考虑到人口和临床研究确定了精神分裂症在发病率、表达、神经解剖和功能大脑异常以及病程方面存在显著的性别差异，情况也是如此。这篇综述重点介绍了该领域的研究历史，从家族传递模式、连锁和双胞胎研究到目前全基因组关联研究的分子遗传策略。总的来说，这些证据支持遗传风险的存在，其中一些是性别特异性的（即在一种性别中存在而在另一种性别中不存在）或性别依赖性的（即性别之间的风险存在定量差异）。因此，有必要系统地研究这些问题，正如我们在这里所主张的，这是充分了解精神分裂症病因所必需的。
