{"created":"2023-06-19T10:43:07.068250+00:00","id":3266,"links":{},"metadata":{"_buckets":{"deposit":"202ad9b3-84cd-4833-8d22-3a48de8d700e"},"_deposit":{"created_by":11,"id":"3266","owners":[11],"pid":{"revision_id":0,"type":"depid","value":"3266"},"status":"published"},"_oai":{"id":"oai:shiga-med.repo.nii.ac.jp:00003266","sets":["10:37"]},"author_link":[],"item_6_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-11","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"6","bibliographicPageEnd":"651","bibliographicPageStart":"639","bibliographicVolumeNumber":"5","bibliographic_titles":[{"bibliographic_title":"Molecular genetics & genomic medicine","bibliographic_titleLang":"en"}]}]},"item_6_date_granted_70":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2017-09-13"}]},"item_6_degree_grantor_68":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"滋賀医科大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"14202","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_6_degree_name_67":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（医学）","subitem_degreename_language":"ja"}]},"item_6_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background: \nArrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. ","subitem_description_language":"en","subitem_description_type":"Abstract"},{"subitem_description":"Methods and results:\nWe genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014. Seventy-five probands who fulfilled \"definite\" category according to the 2010 Task Force Criteria (TFC) were enrolled and followed up for 6.4 years. Sixty-four percent of probands had desmosomal mutations; DSG2 was predominant (48% of mutations) followed by PKP2 (38%). DSG2 mutations were almost missense, whereas over 90% of PKP2 mutations were truncating mutations. Lethal ventricular arrhythmias (VAs, sustained ventricular tachycardia/fibrillation) occurred in 57% of probands as the first manifestation and 71% at the end of follow-up. Five died during follow-up. Truncating mutation carriers exhibited earlier lethal VAs onset compared to missense mutation carriers or mutation negatives (age at onset 35 ± 12, 49 ± 16, and 50 ± 19 years, respectively, P < 0.05 in each). Cox proportional hazard analysis revealed for the first time that, compared to mutation negatives, truncating mutation carriers had higher risk for lethal VAs, and especially for onset by their 40s, in an age-dependent manner (RR = 4.6, P < 0.01 by their 40s; RR = 2.9, P = 0.01 by their 50s). ","subitem_description_language":"en","subitem_description_type":"Abstract"},{"subitem_description":"Conclusion:\nThe genetic background of Japanese ARVD/C probands is distinct from that of Caucasian probands, leading to distinct prognosis. The most affected gene mutations in Japanese probands were missense mutations in DSG2 leading to modest outcome, whereas PKP2 truncating mutations were the second most and might be a strong marker for lethal VAs in non-Caucasian Japanese ARVD/C probands. ","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_6_description_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"Thesis or Dissertation","subitem_description_type":"Other"}]},"item_6_description_69":{"attribute_name":"学位授与年度","attribute_value_mlt":[{"subitem_description":"平成29年度","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_6_dissertation_number_71":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第783号"}]},"item_6_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Wiley Periodicals, Inc. ","subitem_publisher_language":"en"}]},"item_6_relation_10":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"29178656","subitem_relation_type_select":"PMID"}}]},"item_6_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1002/mgg3.311"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1002/mgg3.311","subitem_relation_type_select":"DOI"}}]},"item_6_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. "}]},"item_6_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2324-9269","subitem_source_identifier_type":"EISSN"}]},"item_6_version_type_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85"}]},"item_access_right":{"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_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"WADA, Yuko","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-04-12"}],"displaytype":"detail","filename":"Wada_et_al-2017-Molecular_Genetics_%26_Genomic_Medicine.pdf","filesize":[{"value":"1.7 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Wada_et_al-2017-Molecular_Genetics_%26_Genomic_Medicine","objectType":"fulltext","url":"https://shiga-med.repo.nii.ac.jp/record/3266/files/Wada_et_al-2017-Molecular_Genetics_%26_Genomic_Medicine.pdf"},"version_id":"cc2af025-e39a-4297-96a0-748898271297"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Arrhythmogenic right ventricular dysplasia/cardiomyopathy","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"genetics; phenotype","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"prognosis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"racial difference","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":"資源タイプ","attribute_value_mlt":[{"resourcetype":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.","subitem_title_language":"en"}]},"item_type_id":"6","owner":"11","path":["37"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2018-04-12"},"publish_date":"2018-04-12","publish_status":"0","recid":"3266","relation_version_is_last":true,"title":["Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy."],"weko_creator_id":"11","weko_shared_id":-1},"updated":"2023-09-15T05:17:38.427967+00:00"}