Novel missense SETD1A variants in Japanese patients with schizophrenia : Resequencing and association analysis

Persistent ID (NDL): info:ndljp/pid/12970410

Material type: 博士論文

Author: Morikawa, Ryo

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Publication date: 2023-03-23

Material Format: Digital

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Name of awarding university/degree: 新潟大学,博士（医学）

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Note (General)：: SETD1A has been identified as a substantial risk gene for schizophrenia. To further investigate the role of SETD1A in the genetic etiology of schizoph...

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Material Type: 博士論文
Title: Novel missense SETD1A variants in Japanese patients with schizophrenia : Resequencing and association analysis
Author/Editor: Morikawa, Ryo
Author Heading: Morikawa, Ryo
Publication Date: 2023-03-23
Publication Date (W3CDTF): 2023-03-23
Alternative Title: 日本人統合失調症患者におけるSETD1A遺伝子の新規のミスセンス変異 : リシーケンスと関連解析
Degree grantor/type: 新潟大学
Date Granted: 2023-03-23
Date Granted (W3CDTF): 2023-03-23
Dissertation Number: 甲第5142号
Degree Type: 博士（医学）
Text Language Code: eng
Alias of Author: 森川, 亮
Subject Heading: Developmental delay
Genotyping
Rare variant
Schizophrenia
SETD1A
Target Audience: 一般
Note (General): SETD1A has been identified as a substantial risk gene for schizophrenia. To further investigate the role of SETD1A in the genetic etiology of schizophrenia in the Japanese population, we performed resequencing and association analyses. First, we resequenced the SETD1A coding regions of 974 patients with schizophrenia. Then, we genotyped variants, prioritized via resequencing, in 2,027 patients with schizophrenia and 2,664 controls. Next, we examined the association between SETD1A and schizophrenia in 3,001 patients with schizophrenia and 2,664 controls. Finally, we performed a retrospective chart review of patients with prioritized SETD1A variants. We identified two novel missense variants (p.Ser575Pro and p.Glu857Gln) via resequencing. We did not detect these variants in 4,691 individuals via genotyping. These variants were not significantly associated with schizophrenia in the association analysis. Additionally, we found that a schizophrenia patient with the p.Glu857Gln variant had developmental delays. In conclusion, novel SETD1A missense variants were exclusively identified in Japanese patients with schizophrenia. However, our study does not provide evidence for the contribution of these variants to the genetic etiology of schizophrenia in the Japanese population.
Psychiatry Research. 2022, 310, 114481.
新大院博(医)第1133号
Persistent ID (NDL): info:ndljp/pid/12970410
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Acquisition Basis: 博士論文（自動収集）
Date Accepted (W3CDTF): 2023-08-04T23:03:36+09:00
Format (IMT): application/pdf
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Periodical Title (URI): http://hdl.handle.net/10191/0002001080
https://niigata-u.repo.nii.ac.jp/records/2001080
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