{"created":"2023-06-20T16:47:13.108076+00:00","id":18858,"links":{},"metadata":{"_buckets":{"deposit":"9897500c-0211-4e63-ac48-35e64396b438"},"_deposit":{"created_by":3,"id":"18858","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"18858"},"status":"published"},"_oai":{"id":"oai:kindai.repo.nii.ac.jp:00018858","sets":["14:2667:4374"]},"author_link":["31913","31914","31915","31912","31911","31916"],"item_8_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"5","bibliographicPageStart":"1","bibliographic_titles":[{"bibliographic_title":"科学研究費助成事業研究成果報告書 (2016)"}]}]},"item_8_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"研究成果の概要（和文）：現在50以上の1型糖尿病疾患感受性遺伝子座が報告されているが、これら全てをあわせても1型糖尿病の遺伝素因の70－80％しか説明できない。残されたmissing heritabilityの一部は、アリル頻度は低いが浸透率が高いrare variantにより説明できる。日本人では１型糖尿病発症頻度が低いので3人以上の同胞発症家系は稀である。我々は4姉妹中3人に１型糖尿病を認め、残りの1人は膵島自己抗体が陽性である１家系を見いだした。これら4姉妹および両親を対象に全エクソームシークエンスを行い、全変異から11の候補変異に絞り込み、さらにゲノム連鎖解析の結果等から１つの変異を候補変異として絞り込んだ。\n研究成果の概要（英文）：More than 50 genetic loci have been associated with type 1 diabetes in multiple studies among Caucasian populations, but they have been able to explain only 70-80% of the heritability for type 1 diabetes. Rare variants with high permeability are likely to explain a part of the remaining missing heritability. In Japan, where the prevalence of type 1 diabetes is very low, it is extremely rare for type 1 diabetes to develop in three or more siblings within a family. We found a family, in which type 1 diabetes occurred in three siblings among four sisters and the fourth sister was positive for GAD antibody but had not developed diabetes. To search the rare causative genetic variants, we performed whole-exome sequencing, using parents and four sisters. We narrowed down all exome variants to 11 candidate variants. Moreover, we performed whole-genome linkage analysis. By combining whole-exome sequencing and linkage analysis, we extracted one locus as candidate regions to type 1 diabetes.","subitem_description_type":"Abstract"}]},"item_8_description_36":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"研究種目：基盤研究(C);  研究期間：2014～2016;   課題番号：26461348;   研究分野：糖尿病学;   科研費の分科・細目：","subitem_description_type":"Other"}]},"item_8_description_37":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"Research Paper","subitem_description_type":"Other"}]},"item_8_description_41":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_8_publisher_14":{"attribute_name":"出版者 名前","attribute_value_mlt":[{"subitem_publisher":"近畿大学"}]},"item_8_relation_11":{"attribute_name":"著者 外部リンク","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-26461348/"}]}]},"item_8_text_10":{"attribute_name":"著者 役割","attribute_value_mlt":[{"subitem_text_value":"研究代表者/研究分担者/研究分担者/研究分担者/研究分担者/研究協力者"}]},"item_8_text_7":{"attribute_name":"著者(英)","attribute_value_mlt":[{"subitem_text_language":"en","subitem_text_value":"KAWABATA, Yumiko"},{"subitem_text_language":"en","subitem_text_value":"NOSO, Shinsuke"},{"subitem_text_language":"en","subitem_text_value":"BABAYA, Naru"},{"subitem_text_language":"en","subitem_text_value":"HIROMINE, Yoshihisa"},{"subitem_text_language":"en","subitem_text_value":"MAEGAWA, Hiroshi"}]},"item_8_text_8":{"attribute_name":"著者 所属","attribute_value_mlt":[{"subitem_text_value":"近畿大学医学部; 准教授"},{"subitem_text_value":"近畿大学医学部; 教授"},{"subitem_text_value":"近畿大学医学部; 講師"},{"subitem_text_value":"近畿大学医学部; 講師"},{"subitem_text_value":"近畿大学医学部; 講師"},{"subitem_text_value":"近畿大学医学部; 教授"},{"subitem_text_value":"滋賀医科大学医学部; 教授"}]},"item_8_text_9":{"attribute_name":"著者所属(翻訳)","attribute_value_mlt":[{"subitem_text_value":"Kindai University"},{"subitem_text_value":"Kindai University"},{"subitem_text_value":"Kindai University"},{"subitem_text_value":"Kindai University"},{"subitem_text_value":"Kindai University"}]},"item_8_version_type_12":{"attribute_name":"版","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_be7fb7dd8ff6fe43","subitem_version_type":"NA"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"川畑, 由美子"},{"creatorName":"カワバタ, ユミコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"池上, 博司"},{"creatorName":"イケガミ, ヒロシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"能宗, 伸輔"},{"creatorName":"ノソウ, シンスケ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"馬場谷, 成"},{"creatorName":"ババヤ, ナル","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"廣峰, 義久"},{"creatorName":"ヒロミネ, ヨシヒサ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"前川, 聡"},{"creatorName":"マエガワ, ヒロシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-11-01"}],"displaytype":"detail","filename":"26461348seika.pdf","filesize":[{"value":"262.6 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"26461348seika.pdf","url":"https://kindai.repo.nii.ac.jp/record/18858/files/26461348seika.pdf"},"version_id":"5fca2f5e-01d7-4ecf-bbee-6ed7d06a4370"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"1型糖尿病","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝因子","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"１型糖尿病濃厚発症家系を用いた１型糖尿病疾患感受性遺伝子の同定と機能解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"１型糖尿病濃厚発症家系を用いた１型糖尿病疾患感受性遺伝子の同定と機能解析"},{"subitem_title":"Identification and characterization of susceptible genes to type 1 diabetes using in the clustered family","subitem_title_language":"en"}]},"item_type_id":"8","owner":"3","path":["4374"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-11-01"},"publish_date":"2017-11-01","publish_status":"0","recid":"18858","relation_version_is_last":true,"title":["１型糖尿病濃厚発症家系を用いた１型糖尿病疾患感受性遺伝子の同定と機能解析"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-06-20T21:46:52.759391+00:00"}