Abstract

Family, twin, adoption studies showed that bipolar spectrum disorders—bipolar disorder (BD) types 1 and 2, cyclothymic disorder—may have a familial nature and aggregate among relatives. Moreover, in persons with a history of BD, an earlier manifestation, a more frequent presence of concomitant psychopathology, and a more severe course of the disease are noted. At the same time, despite the high inheritability (up to 85%), BD is phenotypically and genetically very heterogeneous. Modern molecular genetic studies of BD have not shown any convincing results with respect to robust markers of the risk of this disorder. A new solution can be an integrated approach using family design and sequencing methods of the new generation. Studies with a similar methodology have been able to identify new genetic variants associated with BD, which are involved in the development of the cerebral cortex, circadian rhythms, and the processes of glutamate neurotransmission. The family design provides the maximum likelihood of detecting specific genetic markers associated not only with the phenotype but also with potential family forms of BD.

中文翻译：

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双极谱障碍的遗传学：专注于使用整个外显子组测序的家庭研究。

摘要

家庭，双胞胎和收养研究表明，双相情感障碍（双相情感障碍（BD）1型和2型，环胸腺疾病）可能具有家族性质并在亲戚中聚集。而且，在具有BD病史的人中，注意到较早的表现，伴随的精神病理学的更频繁的出现以及该病的更严重的病程。同时，尽管遗传性很高（高达85％），但BD在表型和遗传上非常异质。BD的现代分子遗传学研究尚未显示出关于这种疾病风险的可靠标志物的任何令人信服的结果。新解决方案可以是使用新一代族设计和测序方法的集成方法。采用类似方法的研究已经能够鉴定出与BD相关的新遗传变异，它们参与大脑皮质，昼夜节律的发展以及谷氨酸神经传递的过程。家庭设计提供了最大可能性，不仅可以检测与表型相关的特定遗传标记，还可以检测与BD的潜在家庭形式相关的特定遗传标记。