Genetics and genomics of psychiatric disease

被引:266
|
作者
Geschwind, Daniel H. [1 ,2 ,3 ]
Flint, Jonathan [4 ]
机构
[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA
[2] Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat, Los Angeles, CA 90095 USA
[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
[4] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
基金
英国惠康基金;
关键词
AUTISM SPECTRUM DISORDER; DE-NOVO MUTATIONS; BIPOLAR DISORDER; NEURODEVELOPMENTAL PATHWAYS; FUNCTIONAL IMPACT; WIDE ASSOCIATION; COMPLEX TRAITS; SCHIZOPHRENIA; RARE; RISK;
D O I
10.1126/science.aaa8954
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Large-scale genomic investigations have just begun to illuminate the molecular genetic contributions to major psychiatric illnesses, ranging from small-effect-size common variants to larger-effect-size rare mutations. The findings provide causal anchors from which to understand their neurobiological basis. Although these studies represent enormous success, they highlight major challenges reflected in the heterogeneity and polygenicity of all of these conditions and the difficulty of connecting multiple levels of molecular, cellular, and circuit functions to complex human behavior. Nevertheless, these advances place us on the threshold of a new frontier in the pathophysiological understanding, diagnosis, and treatment of psychiatric disease.
引用
收藏
页码:1489 / 1494
页数:6
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