Search for genetic variations conferring risk of schizophrenia by exome sequencing in a Japanese multiplex pedigree

通过日本多重谱系中的外显子组测序寻找导致精神分裂症风险的遗传变异

• 批准号: 24791203
• 负责人: NUNOKAWA Ayako
• 金额: $ 2.75万
• 依托单位: Niigata University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2012
• 资助国家: 日本
• 起止时间: 2012-04-01 至 2014-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-24791203/
• 关键词: 統合失調症; 全エクソン解析

To identify rare penetrant risk variations for schizophrenia, we performed exome sequencing in a Japanese multiplex schizophrenia pedigree. We obtained DNA from six affected, eight unaffected and one unknown affection status individuals in the pedigree. A total of 302,005 sequence variations were called in the exome sequencing of two affected and one unaffected individuals.We selected seven putatively functional missense variations as candidate risk variations for schizophrenia. Among four variations confirmed by Sanger sequencing, V1525M variation in the UNC13B gene was most strongly cosegregated with schizophrenia in the pedigree. These results suggest that the UNC13B V1525M variation is a potential risk variant for schizophrenia.

为了确定精神分裂症罕见的外显风险变异，我们对一个日本多发性精神分裂症家系进行了外显子组测序。我们从该家系中的6个患病个体、8个未患病个体和1个情感状态未知个体获得了DNA。在对两个患病个体和一个未患病个体的外显子组测序中，共发现了302，005个序列变异，我们选择了7个pupirine功能错义变异作为精神分裂症的候选风险变异。在桑格测序证实的四个变异中，UNC13 B基因的V1525 M变异与精神分裂症的家系共分离最强。这些结果表明UNC13B V1525M变异是精神分裂症的潜在风险变异。

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 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

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

A detailed association analysis between the tryptophan hydroxylase 2 (TPH2) gene and autism spectrum disorders in a Japanese population

• DOI: 10.1016/j.psychres.2011.09.001
• 发表时间: 2012-04-30
• 期刊: PSYCHIATRY RESEARCH
• 影响因子: 11.3
• 作者: Egawa, Jun;Watanabe, Yuichiro;Someya, Toshiyuki
• 通讯作者: Someya, Toshiyuki