{"created":"2021-03-01T06:13:11.878473+00:00","id":9142,"links":{},"metadata":{"_buckets":{"deposit":"30de4c01-6891-4129-87b8-07673dfcd4ee"},"_deposit":{"id":"9142","owners":[],"pid":{"revision_id":0,"type":"depid","value":"9142"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00009142","sets":["453:456","471:537:538:925"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Genetic Association Study on SORL1 with Late - onset Alzheimer's Disease in a Japanese Population"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2013-11","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"11","bibliographicPageEnd":"619","bibliographicPageStart":"605","bibliographicVolumeNumber":"127","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌"},{"bibliographic_title":"新潟医学会雑誌","bibliographic_titleLang":"en"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"臨床検体による大規模ゲノムワイド関連解析によって, SORL1(Sortilin-Related Receptor, L［DLR Class］A Repeats Containing)が晩期発症型アルツハイマー病(LOAD：late-onset Alzheimer's disease)と相関することが報告された. 臨床診断された検体のみならず, 神経病理学的に診断された検体においても, SORL1がLOADと遺伝統計学的に相関するかどうかを検討することは重要である. そこで本研究では神経病理学的に確定診断された検体を対象として, SORL1と日本人LOADとの関連を遺伝統計学的に解析した. 孤発性LOAD 213例, 対照370例の計583例を用いて, SORL1に位置する既報の19カ所の1塩基多型(SNP：single nucleotide polymorphism)をTaqMan法でタイピングし, 各SNPの遺伝型を決定した. ケースコントロール研究によって19 SNPのうち5 SNPは多重比校補正後もLOADと有意に相関した(P_<allele>＜2.63E-03［＝0.05/19]). 年齢, 性別, APOE-ε4アレルの有無を補正したロジスティック回帰解析でもこれら5 SNPはLOADと有意に相関した. HapMapデータベースの日本人SNPを用いたin silico解析から, SORL1には2つの大きな連鎖不平衡(LD：linkage disequilibrium)領域があり, それらは組換えホットスポットで分割されていることが分かった. 有意な相関を示した5 SNPのうち3 SNP(rs985421, rs12364988, rs4598682)はSORL1の5’側のLD領域に位置し, 残りの2 SNP(rs3781834, rs3781836)は3’側のLD領域に位置していた. 各LD領域内のSNP間では強力なLDが認められたことから, SORL1にはLOADと相関する領域が2カ所あることが明らかになった. ヒト凍結死後脳(前頭葉)からRNAを抽出しSORL1の遺伝子発現解析を行ったところ, LOADと対照との間に有意な発現量の差は認められなかった. 神経病理学的に診断された検体による解析でもSORL1は日本人LOADと遺伝統計学的に有意に相関することが再現できたので, SORL1はLOADの有力な感受性遺伝子の1つであると考えられる.","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"63613","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Wen, Yanan"}]}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会"}]},"item_7_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00290440","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"温, 雅楠"}],"nameIdentifiers":[{"nameIdentifier":"63612","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-08-06"}],"displaytype":"detail","filename":"127(11)_605-619.pdf","filesize":[{"value":"1.4 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"127(11)_605-619.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/9142/files/127(11)_605-619.pdf"},"version_id":"c2da3346-aef2-4b15-9712-28a9f38c115d"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Alzheimer's disease","subitem_subject_scheme":"Other"},{"subitem_subject":"SORL1","subitem_subject_scheme":"Other"},{"subitem_subject":"SNP","subitem_subject_scheme":"Other"},{"subitem_subject":"association study","subitem_subject_scheme":"Other"},{"subitem_subject":"postmortem brain","subitem_subject_scheme":"Other"},{"subitem_subject":"neuropathology","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":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"晩期発症型アルツハイマー病とSORL1のゲノム関連解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"晩期発症型アルツハイマー病とSORL1のゲノム関連解析"},{"subitem_title":"晩期発症型アルツハイマー病とSORL1のゲノム関連解析","subitem_title_language":"en"}]},"item_type_id":"7","owner":"1","path":["456","925"],"pubdate":{"attribute_name":"公開日","attribute_value":"2016-01-04"},"publish_date":"2016-01-04","publish_status":"0","recid":"9142","relation_version_is_last":true,"title":["晩期発症型アルツハイマー病とSORL1のゲノム関連解析"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:43:19.934541+00:00"}