Copy number variations and risk of schizophrenia: an analysis in a multiplex pedigree and a following case-control study

拷贝数变异和精神分裂症风险：多重谱系分析和后续病例对照研究

• 批准号: 23591669
• 负责人: KANEKO Naoshi
• 金额: $ 3.41万
• 依托单位: Niigata University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23591669/
• 关键词: 統合失調症; コピー数多型; 関連研究; 多発罹患家系; 関連解析; 臨床精神分子遺伝学; 連鎖解析; 多発罹患大家系

Schizophrenia is a severe neuropsychiatric disorder with complex genetic etiology. Recent studies have revealed that rare or large (>500kb or >1Mb) copy number variations (CNVs) associated with schizophrenia. In a previous study, we have conducted a genome-wide CNV screening in a Japanese multiplex pedigree and have found two large (>500kb) CNVs (1q21.2; 505 kb and 16q11.2; 1,180 kb) in this pedigree.Here, we identified copy numbers of these two CNVs in the multiplex pedigree using real-time polymerase chain reaction method. We found deletions (one copy) of both CNVs in affected and unaffected individuals. Next, we assayed these CNVs in 646 schizophrenia individuals and 674 control individuals. However, there were no significant association between the CNVs and schizophrenia. Also these CNVs are common in our Japanese control samples.

精神分裂症是一种严重的神经精神疾病，具有复杂的遗传病因。近年来的研究发现，精神分裂症患者存在罕见的或较大的（> 500 kb或> 1 Mb）拷贝数变异（CNVs）。在先前的研究中，我们对一个日本多重家系进行了全基因组CNV筛查，发现了两个大的（> 500 kb）CNV（1q21.2; 505 kb和16q11.2; 1,180 kb）。我们发现在受影响和未受影响的个体中两个CNV都有缺失（一个拷贝）。接下来，我们在646名精神分裂症患者和674名对照者中检测了这些CNV。然而，CNVs与精神分裂症之间没有显着关联。这些CNV在我们的日本对照样品中也很常见。

项目成果

Case-control study and meta-analysis of Ser311Cys polymorphism in the DRD2 gene demonstrate lack of association with risk of for schizophrenia in the Japanese population

DRD2 基因 Ser311Cys 多态性的病例对照研究和荟萃分析表明，与日本人群患精神分裂症的风险缺乏关联

• DOI: 10.4238/2012.april.27.13
• 发表时间: 2012
• 期刊: Genetics and Molecular Research
• 影响因子: 0.4
• 作者: Watanabe;Y.;Nunokawa;A.;Kaneko;N.;Shibuya;M.;Egawa;J.;Fukui;N.;Someya;T.
• 通讯作者: T.

Supportive evidence for the association between the Gln2Pro polymorphism in the sigma non-opioid intracellular receptor 1 gene and schizophrenia in the Japanese population

日本人群中 sigma 非阿片类细胞内受体 1 基因 Gln2Pro 多态性与精神分裂症之间关联的支持性证据

• 发表时间: 2013
• 作者: Watanabe Y;Nunokawa A;Kaneko N;Shibuya M;Egawa J;Someya T
• 通讯作者: Someya T

Supportive evidence for the association between the Gln2Pro polymorphism in the SIGMAR1 gene and schizophrenia in the Japanese population : A case-control study and an updated meta-analysis

日本人群中 SIGMAR1 基因 Gln2Pro 多态性与精神分裂症之间关联的支持性证据：病例对照研究和更新的荟萃分析

• DOI: 10.1016/j.schres.2012.06.043
• 发表时间: 2012
• 期刊: Schizophrenia Research
• 影响因子: 4.5
• 作者: Watanabe;Y.;Nunokawa;A.;Kaneko;N.;Shibuya;M.;Egawa;J.;Someya;T.
• 通讯作者: T.

A rare MIR138-2 gene variation is associated with schizophrenia in a Japanese population

• DOI: 10.1016/j.psychres.2013.12.029
• 发表时间: 2014-03
• 期刊: Psychiatry Research
• 影响因子: 11.3
• 作者: Yuichiro Watanabe;A. Hishimoto;M. Shibuya;A. Nunokawa;N. Kaneko;Hirofumi Igeta;J. Egawa;K. Mouri;I. Sora;T. Someya

Replication in a Japanese population that a MIR30E gene variation is associated with schizophrenia

• DOI: 10.1016/j.schres.2013.08.028
• 发表时间: 2013-11
• 期刊: Schizophrenia Research
• 影响因子: 4.5
• 作者: Yuichiro Watanabe;Y. Iijima;J. Egawa;A. Nunokawa;N. Kaneko;T. Arinami;H. Ujike;T. Inada;N. Iwata;H. Kunugi;M. Itokawa;Tsukasa Sasaki;N. Ozaki;R. Hashimoto;M. Shibuya;Hirofumi Igeta;T. Someya