Strong synaptic transmission impact by copy number variations in schizophrenia

Glessner J.T.; Reilly M.P.; Kim C.E.Takahashi N.Albano A.Hou C.Bradfield J.P.Zhang H.Sleiman P.M.A.Flory J.H.Imielinski M.Frackelton E.C.Chiavacci R.Thomas K.A.Garris M.Otieno F.G.Davidson M.Weiser M.Reichenberg A.Davis K.L.

首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Strong synaptic transmission impact by copy number variations in schizophrenia

【24h】

Strong synaptic transmission impact by copy number variations in schizophrenia

机译：Strong synaptic transmission impact by copy number variations in schizophrenia

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相关主题

摘要

Schizophrenia is a psychiatric disorder with onset in late adolescence and unclear etiology characterized by both positive and negative symptoms, as well as cognitive deficits. To identify copy number variations (CNVs) that increase the risk of schizophrenia, we performed a whole-genome CNV analysis on a cohort of 977 schizophrenia cases and 2,000 healthy adults of European ancestry who were genotyped with 1.7 million probes. Positive findings were evaluated in an independent cohort of 758 schizophrenia cases and 1,485 controls. The Gene Ontology synaptic transmission family of genes was notably enriched for CNVs in the cases (P = 1.5 x 10~(-7)). Among these, CACNA1B and DOC2A, both calcium-signaling genes responsible for neuronal excitation, were deleted in 16 cases and duplicated in 10 cases, respectively. In addition, RET and RIT2, both ras-related genes important for neural crest development, were significantly affected by CNVs. RET deletion was exclusive to seven cases, and RIT2 deletions were overrepresented common variant CNVs in the schizophrenia cases. Our results suggest that novel variations involving the processes of synaptic transmission contribute to the genetic susceptibility of schizophrenia.

著录项

来源
《Proceedings of the National Academy of Sciences of the United States of America》 |2010年第23期|10584-10589|共6页
作者
Glessner J.T.; Reilly M.P.; Kim C.E.Takahashi N.Albano A.Hou C.Bradfield J.P.Zhang H.Sleiman P.M.A.Flory J.H.Imielinski M.Frackelton E.C.Chiavacci R.Thomas K.A.Garris M.Otieno F.G.Davidson M.Weiser M.Reichenberg A.Davis K.L.;
展开▼
作者单位

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States;

Penn Cardiovascular Institute, University of Pennsylvania, School of Medicine, Philadelphia, PA 19104, United States;

Conte Center for the Neuroscience of Mental Disorders, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY, 10029, United StatesSheba Medical Center, Tel Hashomer, 52621, IsraelMount Sinai and Institute of Psychiatry, King's College, London, SE5 8AF, United Kingdom;

展开▼
收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种英语
中图分类自然科学总论;
关键词
Genetics; Genomics; Neurobiology;

Strong synaptic transmission impact by copy number variations in schizophrenia

摘要

著录项

相关主题

期刊订阅