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論文
- タイトル
- タイトル（英）
- Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case-control study.
- 参照URL
- https://researchmap.jp/masanariitokawa/published_papers/44112853
- 著者
- 著者（英）
- Tzuyao Lo,Itaru Kushima,Hiroki Kimura,Branko Aleksic,Takashi Okada,Hidekazu Kato,Toshiya Inada,Yoshihiro Nawa,Youta Torii,Maeri Yamamoto,Ryo Kimura,Yasuko Funabiki,Hirotaka Kosaka,Shusuke Numata,Kiyoto Kasai,Tsukasa Sasaki,Shigeru Yokoyama,Toshio Munesue,Ryota Hashimoto,Yuka Yasuda,Michiko Fujimoto,Masahide Usami,Masanari Itokawa,Makoto Arai,Kazutaka Ohi,Toshiyuki Someya,Yuichiro Watanabe,Jun Egawa,Tsutomu Takahashi,Michio Suzuki,Hidenori Yamasue,Nakao Iwata,Masashi Ikeda,Norio Ozaki
- 担当区分
- 概要
- 概要（英）
- 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.
- 出版者・発行元
- 出版者・発行元（英）
- 誌名
- 誌名（英）
- Neuropsychopharmacology reports
- 巻
- 号
- 開始ページ
- 終了ページ
- 出版年月
- 2023年11月1日
- 査読の有無
- 招待の有無
- 掲載種別
- 研究論文（学術雑誌）
- ISSN
- DOI URL
- https://doi.org/10.1002/npr2.12370
- 共同研究・競争的資金等の研究課題
研究者
糸川 昌成
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