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https://hdl.handle.net/20.500.14094/90006292
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2024-04-24
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90006292 (fulltext)
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メタデータID
90006292
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open access
出版タイプ
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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 case-control study
著者
Igeta, Hirofumi ; Watanabe, Yuichiro ; Morikawa, Ryo ; Ikeda, Masashi ; Otsuka, Ikuo ; Hoya, Satoshi ; Koizumi, Masataka ; Egawa, Jun ; Hishimoto, Akitoyo ; Iwata, Nakao ; Someya, Toshiyuki
著者名
Igeta, Hirofumi
著者名
Watanabe, Yuichiro
著者名
Morikawa, Ryo
著者名
Ikeda, Masashi
著者ID
A1560
研究者ID
1000040722880
著者名
Otsuka, Ikuo
大塚, 郁夫
オオツカ, イクオ
所属機関名
医学部附属病院
著者名
Hoya, Satoshi
著者名
Koizumi, Masataka
著者名
Egawa, Jun
著者ID
A1307
研究者ID
1000050529526
KUID
https://kuid-rm-web.ofc.kobe-u.ac.jp/search/detail?systemId=0db51c6a70a77f9c520e17560c007669
著者名
Hishimoto, Akitoyo
菱本, 明豊
ヒシモト, アキトヨ
所属機関名
医学研究科
著者名
Iwata, Nakao
著者名
Someya, Toshiyuki
収録物名
Neuropsychiatric Disease and Treatment
巻(号)
15
ページ
2353-2363
出版者
Dove Medical Press
刊行日
2019-08-19
公開日
2019-09-04
抄録
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 SPATA7 variations, 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 SPATA7 missense 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.
キーワード
Japanese
multiplex schizophrenia family
next-generation sequencing
recessive variations
カテゴリ
医学研究科
医学部附属病院
学術雑誌論文
権利
© 2019 Igeta et al. This work is published and licensed by Dove Medical Press Limited.
The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
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資源タイプ
journal article
言語
English (英語)
eISSN
1178-2021
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関連情報
DOI
https://doi.org/10.2147/NDT.S218773
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