| Item type |
文献 / Documents(1) |
| 公開日 |
2024-10-17 |
| アクセス権 |
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アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 資源タイプ |
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|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
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|
関連識別子 |
https://doi.org/10.1002/npr2.12370 |
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|
関連名称 |
10.1002/npr2.12370 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder : A case–control study |
| 著者 |
Lo, Tzuyao
Kushima, Itaru
Kimura, Hiroki
Aleksic, Branko
Okada, Takashi
Kato, Hidekazu
Inada, Toshiya
Nawa, Yoshihiro
Torii, Youta
Yamamoto, Maeri
Kimura, Ryo
Funabiki, Yasuko
Kosaka, Hirotaka
沼田, 周助
Kasai, Kiyoto
Sasaki, Tsukasa
Yokoyama, Shigeru
Munesue, Toshio
Hashimoto, Ryota
Yasuda, Yuka
Fujimoto, Michiko
Usami, Masahide
Itokawa, Masanari
Arai, Makoto
Ohi, Kazutaka
Someya, Toshiyuki
Watanabe, Yuichiro
Egawa, Jun
Takahashi, Tsutomu
Suzuki, Michio
Yamasue, Hidenori
Iwata, Nakao
Ikeda, Masashi
Ozaki, Norio
|
| 抄録 |
|
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内容記述 |
Aim: The present study aimed to examine the association between copy number variations (CNVs) in parkin (PRKN) and schizophrenia (SCZ) and autism spectrum disorder (ASD) in a large case–control sample.
Method: Array comparative genomic hybridization was performed on 3111 cases with SCZ, 1236 cases with ASD, and 2713 controls. We systematically prioritized likely pathogenic CNVs (LP-CNVs) in PRKN and examined their association with SCZ and ASD.
Results: In total, 3014 SCZ cases (96.9%), 1205 ASD cases (97.5%), and 2671 controls (98.5%) passed quality control. We found that monoallelic carriers of LP-CNVs in PRKN were common (70/6890, 1.02%) and were not at higher risk of SCZ (p = 0.29) or ASD (p = 0.72). We observed that the distribution pattern of LP-CNVs in the Japanese population was consistent with those in other populations. We also identified a patient diagnosed with SCZ and early-onset Parkinson's disease carrying biallelic pathogenic CNVs in PRKN. The absence of Parkinson's symptoms in 10 other monoallelic carriers of the same pathogenic CNV further reflects the lack of effect of monoallelic pathogenic variants in PRKN in the absence of a second hit.
Conclusion: The present findings suggest that monoallelic CNVs in PRKN do not confer a significant risk for SCZ or ASD. However, further studies to investigate the association between biallelic CNVs in PRKN and SCZ and ASD are warranted. |
| キーワード |
|
|
主題 |
autism spectrum disorder |
| キーワード |
|
|
主題 |
DNA copy number variations |
| キーワード |
|
|
主題 |
parkin |
| キーワード |
|
|
主題 |
Parkinson disease 2 |
| キーワード |
|
|
主題 |
schizophrenia |
| 書誌情報 |
en : Neuropsychopharmacology Reports
巻 44,
号 1,
p. 42-50,
発行日 2023-11-01
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| 収録物ID |
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収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2574173X |
| 出版者 |
|
|
出版者 |
WILEY |
| 出版者 |
|
|
出版者 |
The Japanese Society of Neuropsychopharmacology |
| 権利情報 |
|
|
権利情報 |
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| EID |
|
|
識別子 |
406135 |
| 言語 |
|
|
言語 |
eng |
npr_44_1_42.pdf (808 KB)
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