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学科主题: 精神卫生
题名:
Mutation screening and association study of the beta-adrenergic receptor kinase 2 gene in schizophrenia families
作者: Yu, SY1; Takahashi, S1; Arinami, T1; Ohkubo, T1; Nemoto, Y1; Tanabe, E1; Fukura, Y1; Matsuura, M1; Han, YH1; Zhou, RL1; Shen, YC1; Matsushima, E1; Kojima, T1
关键词: beta-adrenergic receptor kinase 2 (ADRBK2) ; G protein-coupled receptor kinase 3 (GRK3) ; schizophrenia ; mutation ; single-nucleotide polymorphism ; transmission disequilibrium test
刊名: PSYCHIATRY RESEARCH
发表日期: 2004-02-15
DOI: 10.1016/j.psychres.2003.12.003
卷: 125, 期:2, 页:95-104
收录类别: SCI ; SSCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Psychiatry
研究领域[WOS]: Psychiatry
关键词[WOS]: EXPLORATORY EYE-MOVEMENTS ; CANDIDATE GENES ; CHROMOSOME 22Q ; LINKAGE ; SUSCEPTIBILITY ; LOCUS
英文摘要:

Chromosome 22q12 is one of the most promising regions for harboring a risk gene for schizophrenia. We have reported significant linkage of intermediate phenotypes for schizophrenia with markers within or near the beta-adrenergic receptor kinase 2 (ADRBK2, or GRK3) gene, which is highly expressed in dopaminergic pathways in the central nervous system, and mediates homologous desensitization for a variety of neurotransmitters and hormones through phosphorylation of G protein-coupled receptors (GPCRs). A polymorphism in the promoter region of the ADRBK2 was reported to be associated with bipolar disorder. We screened the putative promoter region, and all 21 exonic and flanking intronic regions of the ADRBK2 gene for mutations in 48 schizophrenia probands (including 16 Japanese and 32 Chinese patients), and evaluated the detected polymorphisms and those reported in the JSNP database for associations with schizophrenia in 113 family trios of schizophrenia probands. Four single nucleotide variants in the 5′-UTR/promoter region, and 16 rare variants in exonic and flanking regions, were identified. Among them, the Cys208Ser variant was the only non-synonymous mutation. Cys208Ser was found in one family without cosegregation between the variant and schizophrenia. Moreover, allelic, genotypic and haplotypic analyses provided no evidence for association between alleles at these polymorphisms and schizophrenia. The present study indicates that the ADRBK2 gene is unlikely to contribute strongly to schizophrenia susceptibility in this set of families. (C) 2003 Elsevier Ireland Ltd. All rights reserved.

语种: 英语
WOS记录号: WOS:000220445000004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51717
Appears in Collections:北京大学精神卫生研究所_期刊论文

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作者单位: 1.Beijing Univ, Inst Mental Hlth, Beijing 100083, Peoples R China
2.Nihon Univ, Sch Med, Dept Neuropsychiat, Itabashi Ku, Tokyo 1738610, Japan
3.Cent S Univ, Inst Mental Hlth, Changsha 410011, Hunan, Peoples R China
4.Harvard Univ, Sch Med, Massachusetts Mental Hlth Ctr, Dept Psychiat, Boston, MA 02115 USA
5.Univ Tsukuba, Inst Basic Med Sci, Dept Med Genet, Tsukuba, Ibaraki 3058575, Japan
6.Tokyo Med & Dent Univ, Fac Med, Dept Neuropsychiat, Tokyo 1138519, Japan

Recommended Citation:
Yu, SY,Takahashi, S,Arinami, T,et al. Mutation screening and association study of the beta-adrenergic receptor kinase 2 gene in schizophrenia families[J]. PSYCHIATRY RESEARCH,2004,125(2):95-104.
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