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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
http://hdl.handle.net/10191/00051823
http://hdl.handle.net/10191/00051823db02f24a-f044-4a10-9578-0019143ad111
| 名前 / ファイル | ライセンス | アクション |
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本文 (351.3 kB)
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要旨 (573.5 kB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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| 公開日 | 2020-08-31 | |||||
| タイトル | ||||||
| タイトル | 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 | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Japanese | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | multiplex schizophrenia family | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | next-generation sequencing | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | recessive variations | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_46ec | |||||
| タイプ | thesis | |||||
| その他のタイトル | ||||||
| その他のタイトル | 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 | |||||
| 著者 |
Igeta, Hirofumi
× Igeta, Hirofumi |
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| 著者別名 | ||||||
| 識別子Scheme | WEKO | |||||
| 識別子 | 178049 | |||||
| 姓名 | 井桁, 裕文 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | 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. | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Neuropsychiatric Disease and Treatment. 2019, 15, 2353–2363. | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | info:doi/10.2147/NDT.S218773 | |||||
| 著者版フラグ | ||||||
| 値 | ETD | |||||
| 学位名 | ||||||
| 学位名 | 博士(医学) | |||||
| 学位授与機関 | ||||||
| 学位授与機関名 | 新潟大学 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2020-03-23 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 13101甲第4700号 | |||||
| 学位記番号 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 新大院博(医)甲第934号 | |||||
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Igeta, Hirofumi, n.d., 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.
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