{"created":"2021-03-01T07:36:53.452235+00:00","id":55858,"links":{},"metadata":{"_buckets":{"deposit":"cc198d69-1b35-42ca-9580-f9ac88bd22a5"},"_deposit":{"id":"55858","owners":[],"pid":{"revision_id":0,"type":"depid","value":"55858"},"status":"published"},"_oai":{"id":"oai:tsukuba.repo.nii.ac.jp:00055858","sets":["152:2150","3:62:5595:7807"]},"item_5_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-09","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"9","bibliographicVolumeNumber":"7","bibliographic_titles":[{},{"bibliographic_title":"Molecular Genetics & Genomic Medicine","bibliographic_titleLang":"en"}]}]},"item_5_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background\nOur longitudinal exome‐wide association studies previously detected various genetic determinants of complex disorders using ~26,000 single‐nucleotide polymorphisms (SNPs) that passed quality control and longitudinal medical examination data (mean follow‐up period, 5 years) in 4884–6022 Japanese subjects. We found that allele frequencies of several identified SNPs were remarkably different among four ethnic groups. Elucidating the evolutionary history of disease‐susceptibility loci may help us uncover the pathogenesis of the related complex disorders.\n\nMethods\nIn the present study, we conducted evolutionary analyses such as extended haplotype homozygosity, focusing on genomic regions containing disease‐susceptibility loci and based on genotyping data of our previous studies and datasets from the 1000 Genomes Project.\n\nResults\nOur evolutionary analyses suggest that derived alleles of rs78338345 of GGA3, rs7656604 at 4q13.3, rs34902660 of SLC17A3, and six SNPs closely located at 12q24.1 associated with type 2 diabetes mellitus, obesity, dyslipidemia, and three complex disorders (hypertension, hyperuricemia, and dyslipidemia), respectively, rapidly expanded after the human dispersion from Africa (Out‐of‐Africa). Allele frequencies of GGA3 and six SNPs at 12q24.1 appeared to have remarkably changed in East Asians, whereas the derived alleles of rs34902660 of SLC17A3 and rs7656604 at 4q13.3 might have spread across Japanese and non‐Africans, respectively, although we cannot completely exclude the possibility that allele frequencies of disease‐associated loci may be affected by demographic events.\n\nConclusion\nOur findings indicate that derived allele frequencies of nine disease‐associated SNPs (rs78338345 of GGA3, rs7656604 at 4q13.3, rs34902660 of SLC17A3, and six SNPs at 12q24.1) identified in the longitudinal exome‐wide association studies largely increased in non‐Africans after Out‐of‐Africa.","subitem_description_type":"Abstract"}]},"item_5_publisher_27":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Wiley"}]},"item_5_relation_10":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"31402603","subitem_relation_type_select":"PMID"}}]},"item_5_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1002/mgg3.925","subitem_relation_type_select":"DOI"}}]},"item_5_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc."},{"subitem_rights":"This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes."}]},"item_5_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_5_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2324-9269","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"佐久間, 淳"},{"creatorName":"サクマ, ジュン","creatorNameLang":"ja-Kana"},{"creatorName":"SAKUMA, Jun","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"Yasukochi, Yoshiki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takeuchi, Ichiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kato, Kimihiko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Oguri, Mitsutoshi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Fujimaki, Tetsuo","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Horibe, Hideki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamada, Yoshiji","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-09-10"}],"displaytype":"detail","filename":"MGGM_7-9.pdf","filesize":[{"value":"1.0 MB"}],"format":"application/pdf","licensetype":"license_9","mimetype":"application/pdf","url":{"label":"MGGM_7-9","url":"https://tsukuba.repo.nii.ac.jp/record/55858/files/MGGM_7-9.pdf"},"version_id":"aa706315-de74-4502-9b67-c738f1972791"}]},"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":"Evolutionary history of disease‐susceptibility loci identified in longitudinal exome‐wide association studies","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Evolutionary history of disease‐susceptibility loci identified in longitudinal exome‐wide association studies","subitem_title_language":"en"}]},"item_type_id":"5","owner":"1","path":["2150","7807"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-09-10"},"publish_date":"2020-09-10","publish_status":"0","recid":"55858","relation_version_is_last":true,"title":["Evolutionary history of disease‐susceptibility loci identified in longitudinal exome‐wide association studies"],"weko_creator_id":"1","weko_shared_id":5},"updated":"2022-04-27T09:30:42.692010+00:00"}