The genetics of bipolar disorder.,Molecular Psychiatry

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The genetics of bipolar disorder.
Molecular Psychiatry ( IF 9.6 ) Pub Date : 2020-01-06 , DOI: 10.1038/s41380-019-0634-7
Francis James A Gordovez _{1,

2} , Francis J McMahon ₁

Affiliation

Bipolar disorder (BD) is one of the most heritable mental illnesses, but the elucidation of its genetic basis has proven to be a very challenging endeavor. Genome-Wide Association Studies (GWAS) have transformed our understanding of BD, providing the first reproducible evidence of specific genetic markers and a highly polygenic architecture that overlaps with that of schizophrenia, major depression, and other disorders. Individual GWAS markers appear to confer little risk, but common variants together account for about 25% of the heritability of BD. A few higher-risk associations have also been identified, such as a rare copy number variant on chromosome 16p11.2. Large scale next-generation sequencing studies are actively searching for other alleles that confer substantial risk. As our understanding of the genetics of BD improves, there is growing optimism that some clear biological pathways will emerge, providing a basis for future studies aimed at molecular diagnosis and novel therapeutics.

中文翻译：

躁郁症的遗传学。

躁郁症（BD）是最可遗传的精神疾病之一，但阐明其遗传基础已被证明是一项非常具有挑战性的工作。全基因组关联研究（GWAS）改变了我们对BD的理解，为特定遗传标志物和与精神分裂症，重度抑郁症和其他疾病重叠的高度多基因结构提供了首个可再现的证据。单个GWAS标记似乎没有什么危险，但是常见的变体合起来约占BD遗传力的25％。还发现了一些较高风险的关联，例如16p11.2号染色体上的罕见拷贝数变异。大规模的下一代测序研究正在积极寻找具有重大风险的其他等位基因。随着我们对BD遗传学的认识不断提高，

更新日期：2020-01-07

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