{"created":"2023-05-15T09:02:50.530904+00:00","id":3730,"links":{},"metadata":{"_buckets":{"deposit":"e65df60a-5d80-47cf-9963-d61ac9c7fd3d"},"_deposit":{"created_by":3,"id":"3730","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"3730"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:00003730","sets":["557:561:649"]},"author_link":["11480","11474","11478","11855","11481","11476","11472","11477","12259","12251","11473","11482"],"item_3_alternative_title_21":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"北日本の地域住民におけるSLC12A3 遺伝子変異検出頻度について"}]},"item_3_alternative_title_22":{"attribute_name":"タイトル（ヨミ）","attribute_value_mlt":[{"subitem_alternative_title":"キタニホン ノ チイキ ジュウミン ニオケル ＳＬＣ12A3 イデンシ ヘンイ ケンシュツ ヒンド ニツイテ"}]},"item_3_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011-12-26","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2-4","bibliographicPageEnd":"128","bibliographicPageStart":"122","bibliographicVolumeNumber":"62","bibliographic_titles":[{"bibliographic_title":"弘前医学"}]}]},"item_3_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"　Gitelman’s syndrome （GS） is considered to be a rare disorder. To assess the prevalence of GS in the\nJapanese general population and the relationships between mutations of related genes and blood pressure, we\nperformed mutational analysis of the SLC12A3 gene on 1,567 subjects from Aomori Prefecture in northern Japan.\nThree GS mutations in SLC12A3, identified in the subjects with hypokalemia in a preliminary study were assessed\nby the TaqMan PCR method. We detected T180K, L849H and R919C missense mutations in 40, 49 and 57 subjects,\nrespectively. The overall frequency of GS mutations was 8.9%. The mutant allele frequency of T180K, L849H and\nR919C was 1.3, 1.6 and 1.9%, respectively. GS mutant allele frequency in the 1,567 Japanese was more than 4.8%. In\naddition, subjects with L849H mutation had significantly lower systolic blood pressure when compared to subjects\nwith wild-type SLC12A3（ 121.8 ± 18.4 versus 127.8 ± 18.9 mmHg; P < 0.05）. In conclusion, the present results suggest\nthat the frequency of GS mutations is unexpectedly high, although GS is considered to be a rare disorder. The results\nalso suggest that loss-of-function in the SLC12A3 via the L849H mutation reduces blood pressure, thereby contributing\nto resistance to hypertension.","subitem_description_type":"Abstract"}]},"item_3_description_7":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"弘前医学. 62, 2011, p.122-128","subitem_description_type":"Other"}]},"item_3_full_name_2":{"attribute_name":"著者(ヨミ)","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"11481","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ツタヤ, ショウジ"}]},{"nameIdentifiers":[{"nameIdentifier":"11480","nameIdentifierScheme":"WEKO"}],"names":[{"name":"スギモト, カズヒロ"}]},{"nameIdentifiers":[{"nameIdentifier":"12251","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ナカジ, シゲユキ"}]},{"nameIdentifiers":[{"nameIdentifier":"11482","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ヤスジマ, ミノル"}]}]},"item_3_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"11477","nameIdentifierScheme":"WEKO"}],"names":[{"name":"蔦谷, 昭司"}]},{"nameIdentifiers":[{"nameIdentifier":"11476","nameIdentifierScheme":"WEKO"}],"names":[{"name":"杉本, 一博"}]},{"nameIdentifiers":[{"nameIdentifier":"12259","nameIdentifierScheme":"WEKO"}],"names":[{"name":"中路, 重之"}]},{"nameIdentifiers":[{"nameIdentifier":"11478","nameIdentifierScheme":"WEKO"}],"names":[{"name":"保嶋, 実"}]}]},"item_3_publisher_35":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"弘前大学大学院医学研究科・弘前医学会"}]},"item_3_radio_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_radio_item":"Article"}]},"item_3_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00211444","subitem_source_identifier_type":"NCID"}]},"item_3_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0439-1721","subitem_source_identifier_type":"ISSN"}]},"item_3_subject_19":{"attribute_name":"日本十進分類法","attribute_value_mlt":[{"subitem_subject":"490","subitem_subject_scheme":"NDC"}]},"item_3_subject_23":{"attribute_name":"NIIサブジェクト","attribute_value_mlt":[{"subitem_subject":"医学","subitem_subject_scheme":"Other"}]},"item_3_text_4":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"弘前大学大学院医学研究科臨床検査医学講座"},{"subitem_text_value":"弘前大学医学部附属病院検査部"},{"subitem_text_value":"弘前大学大学院医学研究科社会医学講座"}]},"item_3_version_type_18":{"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":"Tsutaya, Shoji"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sugimoto, Kazuhiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakaji, Shigeyuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yasujima, Minoru"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-03-13"}],"displaytype":"detail","filename":"HirosakiMedJ_62(2-4)_122.pdf","filesize":[{"value":"1.1 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"HirosakiMedJ_62(2-4)_122.pdf","url":"https://hirosaki.repo.nii.ac.jp/record/3730/files/HirosakiMedJ_62(2-4)_122.pdf"},"version_id":"34e55d09-c1a7-457d-9702-b23deb2422de"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"SLC12A3","subitem_subject_scheme":"Other"},{"subitem_subject":"ギテルマン症候群","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝学","subitem_subject_scheme":"Other"},{"subitem_subject":"疫学","subitem_subject_scheme":"Other"},{"subitem_subject":"血圧","subitem_subject_scheme":"Other"},{"subitem_subject":"Gitelman’s syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"genetics","subitem_subject_scheme":"Other"},{"subitem_subject":"epidemiology","subitem_subject_scheme":"Other"},{"subitem_subject":"blood pressure","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":"Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern Japan","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern Japan"}]},"item_type_id":"3","owner":"3","path":["649"],"pubdate":{"attribute_name":"公開日","attribute_value":"2012-01-12"},"publish_date":"2012-01-12","publish_status":"0","recid":"3730","relation_version_is_last":true,"title":["Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern Japan"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-05-15T10:09:46.004534+00:00"}