{"_buckets": {"deposit": "0c577e5a-e1f6-4663-86c1-afcb246a7309"}, "_deposit": {"created_by": 3, "id": "14594", "owners": [3], "pid": {"revision_id": 0, "type": "depid", "value": "14594"}, "status": "published"}, "_oai": {"id": "oai:kanazawa-u.repo.nii.ac.jp:00014594", "sets": ["1134"]}, "author_link": ["20107", "438", "25831", "20266", "25826", "25827", "25828", "25829", "25825", "539", "389", "25830"], "item_4_biblio_info_8": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "1994-11-01", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "5", "bibliographicPageEnd": "1882", "bibliographicPageStart": "1872", "bibliographicVolumeNumber": "94", "bibliographic_titles": [{"bibliographic_title": "Journal of Clinical Investigation"}]}]}, "item_4_description_21": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "Genetic determinants of HDL cholesterol (HDL-C) levels in the general population are poorly understood. We previously described plasma cholesteryl ester transfer protein (CETP) deficiency due to an intron 14 G(+1)-to-A mutation(Int14 A) in several families with very high HDL-C levels in Japan. Subjects with HDL-C ≥ 100 mg/dl (n = 130) were screened by PCR single strand conformational polymorphism analysis of the CETP gene. Two other mutations were identified by DNA sequencing or primer-mediated restriction map modification of PCR products: a novel intron 14 splice donor site mutation caused by a T insertion at position +3 from the exon14/intron14 boundary (Int14 T) and a missense mutation (Asp442 to Gly) within exon 15 (D442G). The Int14 T mutation was only found in one family. However, the D442G and Int14 A mutations were highly prevalent in subjects with HDL-C ≥ 60 mg/dl, with combined allele frequencies of 9%, 12%, 21%, and 43% for HDL-C 60-79, 80-99, 100-119, and ≥ 120 mg/dl, respectively. Furthermore, prevalences of the D442G and Int14 A mutations were extremely high in a general sample of Japanese men (n = 236), with heterozygote frequencies of 7% and 2%, respectively. These two mutations accounted for about 10% of the total variance of HDL-C in this population. The phenotype in a genetic compound heterozygote (Int14 T and Int14 A) was similar to that of Int14 A homozygotes (no detectable CETP and markedly increased HDL-C), indicating that the Int14 T produces a null allele. In four D442G homozygotes, mean HDL-C levels (86±26 mg/dl) were lower than in Int14 A homozygotes (158±35 mg/dl), reflecting residual CETP activity in plasma. In 47 D442G heterozygotes, mean HDL-C levels were 91±23 mg/dl, similar to the level in D442G homozygotes, and significantly greater than mean HDL-C levels in Int14 A heterozygotes (69±15 mg/dl). Thus, the D442G mutation acts differently to the null mutations with weaker effects on HDL in the homozygous state and stronger effects in the heterozygotes, suggesting dominant expression of a partially defective allele. CETP deficiency, reflecting two prevalent mutations (D442G and Int14 A), is the first example of a genetic deficiency state which is sufficiently common to explain a significant fraction of the variation in HDL-C in the general population.", "subitem_description_type": "Abstract"}]}, "item_4_description_5": {"attribute_name": "提供者所属", "attribute_value_mlt": [{"subitem_description": "金沢大学大学院医学系研究科病態検査学", "subitem_description_type": "Other"}]}, "item_4_publisher_17": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "American Society for Clinical Investigation"}]}, "item_4_relation_12": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type": "isIdenticalTo", "subitem_relation_type_id": {"subitem_relation_type_id_text": "10.1172/JCI117537", "subitem_relation_type_select": "DOI"}}]}, "item_4_source_id_11": {"attribute_name": "NCID", "attribute_value_mlt": [{"subitem_source_identifier": "AA00695520", "subitem_source_identifier_type": "NCID"}]}, "item_4_source_id_9": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "0021-9738", "subitem_source_identifier_type": "ISSN"}]}, "item_4_version_type_25": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_970fb48d4fbd8a85", "subitem_version_type": "VoR"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Inazu, Akihiro"}], "nameIdentifiers": [{"nameIdentifier": "539", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "80293348", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=80293348"}, {"nameIdentifier": "80293348", "nameIdentifierScheme": "金沢大学研究者情報", "nameIdentifierURI": "http://ridb.kanazawa-u.ac.jp/public/detail.php?kaken=80293348"}, {"nameIdentifier": "80293348", "nameIdentifierScheme": "研究者番号", "nameIdentifierURI": "https://nrid.nii.ac.jp/nrid/1000080293348"}]}, {"creatorNames": [{"creatorName": "Jiang, Xian Cheng"}], "nameIdentifiers": [{"nameIdentifier": "25825", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Haraki, Tatsuo"}], "nameIdentifiers": [{"nameIdentifier": "25826", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yagi, Kunimasa"}], "nameIdentifiers": [{"nameIdentifier": "438", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "30293343", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=30293343"}, {"nameIdentifier": "30293343", "nameIdentifierScheme": "金沢大学研究者情報", "nameIdentifierURI": "http://ridb.kanazawa-u.ac.jp/public/detail.php?kaken=30293343"}, {"nameIdentifier": "30293343", "nameIdentifierScheme": "研究者番号", "nameIdentifierURI": "https://nrid.nii.ac.jp/nrid/1000030293343"}]}, {"creatorNames": [{"creatorName": "Kamon, Nobuo"}], "nameIdentifiers": [{"nameIdentifier": "25827", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Koizumi, Jyunji"}], "nameIdentifiers": [{"nameIdentifier": "20266", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "20161846", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=20161846"}, {"nameIdentifier": "20161846", "nameIdentifierScheme": "研究者番号", "nameIdentifierURI": "https://nrid.nii.ac.jp/nrid/1000020161846"}]}, {"creatorNames": [{"creatorName": "Mabuchi, Hiroshi"}], "nameIdentifiers": [{"nameIdentifier": "389", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "00019960", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=00019960"}, {"nameIdentifier": "00019960", "nameIdentifierScheme": "研究者番号", "nameIdentifierURI": "https://nrid.nii.ac.jp/nrid/1000000019960"}]}, {"creatorNames": [{"creatorName": "Takeda, Ryoyu"}], "nameIdentifiers": [{"nameIdentifier": "20107", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "50019535", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=50019535"}, {"nameIdentifier": "50019535", "nameIdentifierScheme": "研究者番号", "nameIdentifierURI": "https://nrid.nii.ac.jp/nrid/1000050019535"}]}, {"creatorNames": [{"creatorName": "Takata, K."}], "nameIdentifiers": [{"nameIdentifier": "25828", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Moriyama, Yuri"}], "nameIdentifiers": [{"nameIdentifier": "25829", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Doi, Mitsunori"}], "nameIdentifiers": [{"nameIdentifier": "25830", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tall, Alan R."}], "nameIdentifiers": [{"nameIdentifier": "25831", "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": "2017-10-03"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "ME-PR-INAZU-A-1872.pdf", "filesize": [{"value": "2.2 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 2200000.0, "url": {"label": "ME-PR-INAZU-A-1872.pdf", "url": "https://kanazawa-u.repo.nii.ac.jp/record/14594/files/ME-PR-INAZU-A-1872.pdf"}, "version_id": "3559cbe0-da5d-4186-945b-2f203bd72e69"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "cholesteryl ester transfer protein deficiency", "subitem_subject_scheme": "Other"}, {"subitem_subject": "high density lipoprotein", "subitem_subject_scheme": "Other"}, {"subitem_subject": "hyper-alphalipoproteinemia", "subitem_subject_scheme": "Other"}, {"subitem_subject": "missense mutation", "subitem_subject_scheme": "Other"}, {"subitem_subject": "splice donor site mutation", "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": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol"}]}, "item_type_id": "4", "owner": "3", "path": ["1134"], "permalink_uri": "http://hdl.handle.net/2297/27063", "pubdate": {"attribute_name": "公開日", "attribute_value": "2017-10-03"}, "publish_date": "2017-10-03", "publish_status": "0", "recid": "14594", "relation": {}, 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