Bipolar Disorder 1 Genetics of bipolar disorder

被引：415

作者：

Craddock, Nick ^{[1
]}

Sklar, Pamela ^{[2
,3
]}

机构：

[1] Cardiff Univ, Sch Med, Inst Psychol Med & Clin Neurosci, Cardiff CF14 4XN, S Glam, Wales

[2] Mt Sinai, Icahn Sch Med, Friedman Brain Inst, Div Psychiat Genom,Dept Psychiat, New York, NY USA

[3] Mt Sinai, Icahn Sch Med, Inst Genom & Multiscale Biol, New York, NY USA

来源：

LANCET | 2013年 / 381卷 / 9878期

基金：

英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; COPY NUMBER VARIANTS; PSYCHIATRIC-DISORDERS; SCHIZOPHRENIA; RISK; METAANALYSIS; DEPRESSION; PHENOTYPE; CONSENSUS; ETIOLOGY;

D O I：

10.1016/S0140-6736(13)60855-7

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Studies of families and twins show the importance of genetic factors affecting susceptibility to bipolar disorder and suggest substantial genetic and phenotypic complexity. Robust and replicable genome-wide significant associations have recently been reported in genome-wide association studies at several common polymorphisms, including variants within the genes CACNA1C, ODZ4, and NCAN. Strong evidence exists for a polygenic contribution to risk (ie, many risk alleles of small effect). A notable finding is the overlap of susceptibility between bipolar disorder and schizophrenia for several individual risk alleles and for the polygenic risk. By contrast, genomic structural variation seems to play a smaller part in bipolar disorder than it does in schizophrenia. Together, these genetic findings suggest directions for future studies to delineate the aetiology and pathogenesis of bipolar disorder, indicate the need to re-evaluate our diagnostic classifications, and might eventually pave the way for major improvements in clinical management.

引用

页码：1654 / 1662

页数：9

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