Resequencing of early growth response 2 (EGR2) gene revealed a recurrent patient-specific mutation in schizophrenia

Tsung Ming Hu; Chia Hsiang Chen; Yang An Chuang; Shih Hsin Hsu; Min Chih Cheng

doi:10.1016/j.psychres.2015.05.035

Resequencing of early growth response 2 (EGR2) gene revealed a recurrent patient-specific mutation in schizophrenia

Tsung Ming Hu
, Chia Hsiang Chen
, Yang An Chuang
, Shih Hsin Hsu
, Min Chih Cheng^*

^*此作品的通信作者

生物醫學系(含學士班、臨床試驗與評估碩士班)

Veterans General Hospital-Taipei
St. Mary's Junior College of Medicine

研究成果: 期刊稿件 › 文章 › 同行評審

8 引文斯高帕斯（Scopus）

摘要

Abnormal myelination is considered as part of the pathophysiology of schizophrenia. We resequenced the genomic DNA of the EGR2, which has a specific function in the myelination of peripheral nervous system, in 543 schizophrenic patients and 554 non-psychotic controls. We identified six known SNPs, which were not associated with schizophrenia. Nevertheless, we discovered 24 rare mutations, some of them were patient-specific, including a recurrent mutation (p.P173_Y174insP), which might be associated with the pathogenesis of schizophrenia.

原文	英語
頁（從 - 到）	958-960
頁數	3
期刊	Psychiatry Research
卷	228
發行號	3
DOIs	https://doi.org/10.1016/j.psychres.2015.05.035
出版狀態	已出版 - 30 08 2015

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Publisher Copyright:
© 2015 Elsevier Ireland Ltd.

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10.1016/j.psychres.2015.05.035

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abstract = "Abnormal myelination is considered as part of the pathophysiology of schizophrenia. We resequenced the genomic DNA of the EGR2, which has a specific function in the myelination of peripheral nervous system, in 543 schizophrenic patients and 554 non-psychotic controls. We identified six known SNPs, which were not associated with schizophrenia. Nevertheless, we discovered 24 rare mutations, some of them were patient-specific, including a recurrent mutation (p.P173\_Y174insP), which might be associated with the pathogenesis of schizophrenia.",

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AU - Hu, Tsung Ming

AU - Chen, Chia Hsiang

AU - Chuang, Yang An

AU - Hsu, Shih Hsin

AU - Cheng, Min Chih

PY - 2015/8/30

Y1 - 2015/8/30

N2 - Abnormal myelination is considered as part of the pathophysiology of schizophrenia. We resequenced the genomic DNA of the EGR2, which has a specific function in the myelination of peripheral nervous system, in 543 schizophrenic patients and 554 non-psychotic controls. We identified six known SNPs, which were not associated with schizophrenia. Nevertheless, we discovered 24 rare mutations, some of them were patient-specific, including a recurrent mutation (p.P173_Y174insP), which might be associated with the pathogenesis of schizophrenia.

AB - Abnormal myelination is considered as part of the pathophysiology of schizophrenia. We resequenced the genomic DNA of the EGR2, which has a specific function in the myelination of peripheral nervous system, in 543 schizophrenic patients and 554 non-psychotic controls. We identified six known SNPs, which were not associated with schizophrenia. Nevertheless, we discovered 24 rare mutations, some of them were patient-specific, including a recurrent mutation (p.P173_Y174insP), which might be associated with the pathogenesis of schizophrenia.

KW - EGR2

KW - Rare mutation

KW - Schizophrenia

UR - https://www.scopus.com/pages/publications/84938740080

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DO - 10.1016/j.psychres.2015.05.035

M3 - 文章

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AN - SCOPUS:84938740080

SN - 0165-1781

VL - 228

SP - 958

EP - 960

JO - Psychiatry Research

JF - Psychiatry Research

IS - 3

ER -

Resequencing of early growth response 2 (EGR2) gene revealed a recurrent patient-specific mutation in schizophrenia

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