Rare compound heterozygous missense SPATA7 variations and risk of schizophrenia : whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a casecontrol study

• Material Type: 博士論文
• Title: Rare compound heterozygous missense SPATA7 variations and risk of schizophrenia : whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a casecontrol study
• Author/Editor: Igeta, Hirofumi
• Publication Date: 2020-03-23
• Publication Date (W3CDTF): 2020-03-23
• Alternative Title: SPATA7遺伝子の稀な複合ヘテロ接合体ミスセンス変異と統合失調症のリスク : 罹患同胞を有する血族婚家系の
• Degree grantor/type: 新潟大学
• Date Granted: 2020-03-23
• Date Granted (W3CDTF): 2020-03-23
• Dissertation Number: 甲第4700号
• Degree Type: 博士(医学)
• Conferring No. (Dissertation): 甲第4700号
• Text Language Code: eng
• Subject Heading: Japanese; multiplex schizophrenia family; next-generation sequencing; recessive variations
• Note (General): Purpose: Whole-exome sequencing (WES) of multiplex families is a promising strategy for identifying causative variations for common diseases. To identify rare recessive risk variations for schizophrenia, we performed a WES study in a consanguineous family with affected siblings. We then performed follow-up sequencing of SPATA7 in schizophrenia-affected families. In addition, we performed a case-control study to investigate association between SPATA7 variations and schizophrenia. Patients and methods: WES was performed on two affected siblings and their unaffected parents, who were second cousins, of a multiplex schizophrenia family. Subsequently, we sequenced the coding region of SPATA7, a potential risk gene identified by the WES analysis, in 142 affected offspring from 137 families for whom parental DNA samples were available. We further tested rare recessive SPATA7 variations, identified by WES and sequencing, for associations with schizophrenia in 2,756 patients and 2,646 controls. Results: Our WES analysis identified rare compound heterozygous missense SPATA7variations, p.Asp134Gly and p.Ile332Thr, in both affected siblings. Sequencing SPATA7 coding regions from 137 families identified no rare recessive variations in affected offspring. In the case-control study, we did not detect the rare compound heterozygous SPATA7missense variations in patients or controls. Conclusion: Our data does not support the role of the rare compound heterozygous SPATA7 missense variations p.Asp134Gly and p.Ile332Thr in conferring a substantial risk of schizophrenia.; Neuropsychiatric Disease and Treatment. 2019, 15, 2353–2363.; 新大院博(医)甲第934号
• DOI: info:doi/10.2147/NDT.S218773; https://doi.org/info:doi/10.2147/NDT.S218773
• Persistent ID (NDL): info:ndljp/pid/11538627; https://dl.ndl.go.jp/pid/11538627
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2020-09-07T06:04:08+09:00
• Date Created (W3CDTF): 2020-08-31
• Format (IMT): application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Periodical Title (URI): http://hdl.handle.net/10191/00051823
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp