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Resequencing and Association Analysis of the KALRN and EPHB1 Genes And Their Contribution to Schizophrenia Susceptibility
http://hdl.handle.net/2237/14925
http://hdl.handle.net/2237/14925ca584790-6fc6-4c7d-8b58-50c30b7353cc
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
k9061.pdf (240.5 kB)
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| アイテムタイプ | 学位論文 / Thesis or Dissertation(1) | |||||
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| 公開日 | 2011-06-07 | |||||
| タイトル | ||||||
| タイトル | Resequencing and Association Analysis of the KALRN and EPHB1 Genes And Their Contribution to Schizophrenia Susceptibility | |||||
| 言語 | en | |||||
| 著者 |
Kushima, Itaru
× Kushima, Itaru× Nakamura, Yukako× Aleksic, Branko× Ikeda, Masashi× Ito, Yoshihito× Shiino, Tomoko× Okochi, Tomo× Fukuo, Yasuhisa× Ujike, Hiroshi× Suzuki, Michio× Inada, Toshiya× Hashimoto, Ryota× Takeda, Masatoshi× Kaibuchi, Kozo× Iwata, Nakao× Ozaki, Norio |
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| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 権利 | ||||||
| 権利情報 | © The Author 2010. Published by Oxford University Press. | |||||
| 言語 | en | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | synaptogenic pathway | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | rare missense mutations | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | GWAS | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Japanese population | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Background: Our genome-wide association study of schizophrenia found association signals at the Kalirin gene (KALRN) and EPH receptor B1 gene (EPHB1) in a Japanese population. The importance of these synaptogenic pathway genes in schizophrenia is gaining independent supports. Although there has been growing interest in rare (<1%) missense mutations as potential contributors to the unexplained heritability of schizophrenia, there are no population-based studies targeting rare (<1%) coding mutations with a larger effect size (eg, OR >1.5) in KALRN or EPHB1. Methods and Results: The present study design consisted of 3 phases. At the discovery phase, we conducted resequencing analyses for all exon regions of KALRN and EPHB1 using a DNA microarray–based method. Seventeen rare (<1%) missense mutations were discovered in the first sample set (320 schizophrenic patients). After the prioritization phase based on frequencies in the second sample set (729 cases and 562 controls), we performed association analyses for each selected mutation using the third sample set (1511 cases and 1517 controls), along with a combined association analysis across all selected mutations. In KALRN, we detected a significant association between schizophrenia and P2255T (OR 5 2.09, corrected P = .048, 1 tailed); this was supported in the combined association analysis (OR52.07, corrected P = .006, 1 tailed). We found no evidence of association of EPHB1 with schizophrenia. In silico analysis indicated the functional relevance of these rare missense mutations. Conclusion: We provide evidence that multiple rare (<1%) missense mutations in KALRN may be genetic risk factors for schizophrenia. | |||||
| 言語 | en | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 名古屋大学博士学位論文 学位の種類 : 博士(医学)(課程) 学位授与年月日:平成23年3月25日 久島周氏の博士論文として提出された | |||||
| 言語 | ja | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | First published online: November 1, 2010 | |||||
| 言語 | en | |||||
| 出版者 | ||||||
| 出版者 | Oxford University Press | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_db06 | |||||
| タイプ | doctoral thesis | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1093/schbul/sbq118 | |||||
| ISSN | ||||||
| 収録物識別子タイプ | EISSN | |||||
| 収録物識別子 | 1745-1701 | |||||
| 書誌情報 |
en : Schizophrenia Bulletin 巻 38, 号 3, p. 552-560, 発行日 2012-03 |
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| 学位名 | ||||||
| 学位名 | 博士(医学) | |||||
| 言語 | ja | |||||
| 学位授与機関 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 13901 | |||||
| 学位授与機関名 | 名古屋大学 | |||||
| 言語 | ja | |||||
| 学位授与機関名 | NAGOYA University | |||||
| 言語 | en | |||||
| 学位授与年度 | ||||||
| 学位授与年度 | 2011 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2012-03-01 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲第9061号 | |||||
| 著者版フラグ | ||||||
| 値 | publisher | |||||
| URI | ||||||
| 識別子 | http://dx.doi.org/10.1093/schbul/sbq118 | |||||
| 識別子タイプ | DOI | |||||
| URI | ||||||
| 識別子 | http://hdl.handle.net/2237/14925 | |||||
| 識別子タイプ | HDL | |||||
