{"created":"2024-09-27T07:25:24.401623+00:00","id":2000250,"links":{},"metadata":{"_buckets":{"deposit":"838f5843-02e9-4569-a8f0-29ff99ace1bf"},"_deposit":{"created_by":51,"id":"2000250","owner":"51","owners":[51],"pid":{"revision_id":0,"type":"depid","value":"2000250"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02000250","sets":["1713853213384:1713853295607"]},"author_link":["306"],"control_number":"2000250","item_10001_biblio_info_7":{"attribute_name":"bibliographic_information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2023-11-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"50","bibliographicPageStart":"42","bibliographicVolumeNumber":"44","bibliographic_titles":[{"bibliographic_title":"Neuropsychopharmacology Reports","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"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.\nMethod: 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.\nResults: 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.\nConclusion: 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.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"WILEY","subitem_publisher_language":"en"},{"subitem_publisher":"The Japanese Society of Neuropsychopharmacology","subitem_publisher_language":"en"}]},"item_10001_rights_15":{"attribute_name":"item_10001_rights_15","attribute_value_mlt":[{"subitem_rights":"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.","subitem_rights_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"2574173X","subitem_source_identifier_type":"EISSN"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_1722929371688":{"attribute_name":"item_1722929371688","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"10.1002/npr2.12370"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1002/npr2.12370","subitem_relation_type_select":"DOI"}}]},"item_1723180141928":{"attribute_name":"item_1723180141928","attribute_value_mlt":[{"subitem_identifier_type":"URI","subitem_identifier_uri":"406135"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Lo, Tzuyao","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kushima, Itaru","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kimura, Hiroki","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Aleksic, Branko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Okada, Takashi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kato, Hidekazu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Inada, Toshiya","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nawa, Yoshihiro","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Torii, Youta","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yamamoto, Maeri","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kimura, Ryo","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Funabiki, Yasuko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kosaka, Hirotaka","creatorNameLang":"en"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"http://www.isni.org/isni/"}],"affiliationNames":[{"affiliationName":"","affiliationNameLang":"ja"}]}],"creatorNames":[{"creatorName":"沼田, 周助","creatorNameLang":"ja"},{"creatorName":"ヌマタ, シュウスケ","creatorNameLang":"ja-Kana"},{"creatorName":"Numata, Shusuke","creatorNameLang":"en"}],"familyNames":[{"familyName":"沼田","familyNameLang":"ja"},{"familyName":"ヌマタ","familyNameLang":"ja-Kana"},{"familyName":"Numata","familyNameLang":"en"}],"givenNames":[{"givenName":"周助","givenNameLang":"ja"},{"givenName":"シュウスケ","givenNameLang":"ja-Kana"},{"givenName":"Shusuke","givenNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"306","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"172447/profile-ja.html","nameIdentifierScheme":"徳島大学 教育研究者総覧","nameIdentifierURI":"http://pub2.db.tokushima-u.ac.jp/ERD/person/172447/profile-ja.html"},{"nameIdentifier":"10403726","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://nrid.nii.ac.jp/ja/search/?qm=10403726"}]},{"creatorNames":[{"creatorName":"Kasai, Kiyoto","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Sasaki, Tsukasa","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yokoyama, Shigeru","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Munesue, Toshio","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Hashimoto, Ryota","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yasuda, Yuka","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Fujimoto, Michiko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Usami, Masahide","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Itokawa, Masanari","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Arai, Makoto","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Ohi, Kazutaka","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Someya, Toshiyuki","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Watanabe, Yuichiro","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Egawa, Jun","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Takahashi, Tsutomu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Suzuki, Michio","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yamasue, Hidenori","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Iwata, Nakao","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Ikeda, Masashi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Ozaki, Norio","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2024-01-01"}],"displaytype":"detail","filename":"npr_44_1_42.pdf","filesize":[{"value":"808 KB"}],"format":"application/pdf","licensetype":"license_0","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://tokushima-u.repo.nii.ac.jp/record/2000250/files/npr_44_1_42.pdf"},"version_id":"098baf26-1beb-4bd5-ae8a-8479e07d6513"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"autism spectrum disorder","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"DNA copy number variations","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"parkin","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Parkinson disease 2","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"schizophrenia","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"item_resource_type","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder : A case–control study","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder : A case–control study","subitem_title_language":"en"}]},"item_type_id":"40001","owner":"51","path":["1713853295607"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2024-10-17"},"publish_date":"2024-10-17","publish_status":"0","recid":"2000250","relation_version_is_last":true,"title":["Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder : A case–control study"],"weko_creator_id":"51","weko_shared_id":-1},"updated":"2025-01-27T06:47:49.594953+00:00"}