{"created":"2023-06-20T16:49:52.017664+00:00","id":22178,"links":{},"metadata":{"_buckets":{"deposit":"e90082f6-2c71-4813-8346-ee051cbfc43c"},"_deposit":{"created_by":3,"id":"22178","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"22178"},"status":"published"},"_oai":{"id":"oai:kindai.repo.nii.ac.jp:00022178","sets":["14:2667:4710"]},"author_link":["3264","30503","4038","4011","30504"],"item_8_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"11","bibliographicPageStart":"1","bibliographic_titles":[{"bibliographic_title":"科学研究費助成事業研究成果報告書 (2020)"}]}]},"item_8_description_25":{"attribute_name":"リンクURL","attribute_value_mlt":[{"subitem_description":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18K08530/ | https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18K08530/","subitem_description_type":"Other"}]},"item_8_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"研究成果の概要（和文）：１型糖尿病の成因を分子レベルで解明し、予知・予防・根治療法への展開を目的として、ゲノムワイド関連解析（GWAS）によるありふれた多型（common variant）の同定と、濃厚発症家系を対象とした全エクソームシークエンスによるrare variantの同定を進めた。GWASではゲノムワイドの有意水準をクリアする遺伝子を既知のＨＬＡ領域に加えて、non-HLA遺伝子として世界で初めて染色体12q13.13に同定した。濃厚家系における解析から、複数の家系に共通して疾患感受性に関与する遺伝子と、個々の家系で疾患感受性の関与する遺伝子の両者が存在することが示された。研究成果の概要（英文）：To clarify pathogenesis of type 1 diabetes for the development of effective methods for prediction, prevention and cure of type 1 diabetes, we performed molecular genetic analysis of type 1 diabetes by using two approaches. 1) Common variants: genome-wide association study on fulminant type 1 diabetes, 2) Rare variants: whole-exome sequencing in rare multiplex families with type 1 diabetes in Japanese population. GWAS identified two loci associated with fulminant type 1 diabetes with genome-wide significance: HLA on chromosome 6 and CSAD/lnc-ITGB7-1 on chromosome 12q13.13. In multiplex families, existence of two categories of susceptibility genes, genes specific to each family and genes common in multiple families, were found to be present, indicating the importance of precision medicine based on susceptibility genes in each family.","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：2018～2020;   課題番号：18K08530;   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_text_10":{"attribute_name":"著者 役割","attribute_value_mlt":[{"subitem_text_value":"研究代表者"},{"subitem_text_value":"研究分担者"},{"subitem_text_value":"研究分担者"},{"subitem_text_value":"研究分担者"},{"subitem_text_value":"研究分担者"}]},"item_8_text_7":{"attribute_name":"著者(英)","attribute_value_mlt":[{"subitem_text_language":"en","subitem_text_value":"IKEGAMI, Hiroshi"},{"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":"KAWABATA, Yumiko"},{"subitem_text_language":"en","subitem_text_value":"NOSO, Shinsuke"}]},"item_8_text_8":{"attribute_name":"著者 所属","attribute_value_mlt":[{"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; 客員准教授"},{"subitem_text_value":"近畿大学医学部; 准教授"}]},"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":"池上, 博司"},{"creatorName":"イケガミ, ヒロシ","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":"川畑, 由美子"},{"creatorName":"カワバタ, ユミコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"能宗, 伸輔"},{"creatorName":"ノウソウ, シンスケ","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":"2021-11-25"}],"displaytype":"detail","filename":"18K08530seika.pdf","filesize":[{"value":"103.2 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"18K08530seika.pdf","url":"https://kindai.repo.nii.ac.jp/record/22178/files/18K08530seika.pdf"},"version_id":"6f340779-f106-4315-a3fb-d9c4daeb4a9e"}]},"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":"遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"分子遺伝学","subitem_subject_scheme":"Other"},{"subitem_subject":"次世代シークエンス","subitem_subject_scheme":"Other"},{"subitem_subject":"濃厚家系","subitem_subject_scheme":"Other"},{"subitem_subject":"ゲノムワイド関連解析","subitem_subject_scheme":"Other"},{"subitem_subject":"rare variant","subitem_subject_scheme":"Other"},{"subitem_subject":"common variant","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型糖尿病遺伝子の同定と解析：濃厚発症家系における全エクソームシークエンス","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"１型糖尿病遺伝子の同定と解析：濃厚発症家系における全エクソームシークエンス"},{"subitem_title":"Identification of susceptibility genes for type 1 diabetes: whole-exome sequence analysis in rare multiplex families in Japanese","subitem_title_language":"en"}]},"item_type_id":"8","owner":"3","path":["4710"],"pubdate":{"attribute_name":"公開日","attribute_value":"2021-11-25"},"publish_date":"2021-11-25","publish_status":"0","recid":"22178","relation_version_is_last":true,"title":["１型糖尿病遺伝子の同定と解析：濃厚発症家系における全エクソームシークエンス"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-06-20T19:43:44.683744+00:00"}