Copy number variation and risk of schizophrenia : a genome-wide analysis in a multiplex pedigree

拷贝数变异和精神分裂症的风险：多重谱系的全基因组分析

• 批准号: 21791116
• 负责人: KANEKO Naoshi
• 金额: $ 2.83万
• 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: 2009
• 资助国家: 日本
• 起止时间: 2009 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21791116/
• 关键词: 臨床精神分子遺伝学; コピー数多型; 統合失調症; 関連解析; SNP; 分子遺伝; 連鎖解析

We conducted a genome-wide copy number variation (CNV) screening in a large multiplex schizophrenia pedigree and performed a follow up case-control study. In screening using microarray method, we found a CNV which potentially co-segregated with schizophrenia. We analyzed This CNV by means of a TaqMan real-time PCR assay and found complete deletions of CNVs in five of six affected individuals and an individual with affection status of unknown. We also conducted a case-control study in 627 patients of schizophrenia and 620 healthy controls. There was no significant association between complete deletions of the CNVs and schizophrenia. Taken together, these results suggest that the CNV may not confer increased susceptibility to schizophrenia.

我们对一个大型多重精神分裂症家系进行了全基因组拷贝数变异（CNV）筛查，并进行了随访病例对照研究。在使用微阵列方法进行筛选时，我们发现了一种可能与精神分裂症共分离的CNV。我们通过TaqMan实时PCR检测分析了该CNV，发现6个受影响个体中的5个和1个感染状态未知的个体中CNV完全缺失。并对627例精神分裂症患者和620例健康对照者进行了病例对照研究。CNVs完全缺失与精神分裂症之间无显著相关性。总之，这些结果表明CNV可能不会增加精神分裂症的易感性。

项目成果

A case–control study and meta-analysis of association between a common copy number variation of the glutathione S-transferase mu 1 (GSTM1) gene and schizophrenia

• DOI: 10.1016/j.schres.2010.08.001
• 发表时间: 2010-12
• 期刊: Schizophrenia Research
• 影响因子: 4.5
• 作者: Yuichiro Watanabe;A. Nunokawa;N. Kaneko;T. Someya

統合失調症多発罹患家系における全ゲノムコピー数多型の検索

寻找多发精神分裂症病例家族的全基因组拷贝数变异

• 发表时间: 2010
• 作者: 金子尚史;渡部雄一郎;村竹辰之;布川綾子;染矢俊幸
• 通讯作者: 染矢俊幸