{"created":"2022-02-22T07:17:50.808550+00:00","id":2016873,"links":{},"metadata":{"_buckets":{"deposit":"29de6fdf-173f-45c2-aabd-0a75ffd83f9e"},"_deposit":{"id":"2016873","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"2016873"},"status":"published"},"_oai":{"id":"oai:u-ryukyu.repo.nii.ac.jp:02016873","sets":["1642838163960:1642838198944:1642838199408:1642838230007","1642838403551:1642838412624"]},"author_link":[],"control_number":"2016873","item_1617186331708":{"attribute_name":"Title","attribute_value_mlt":[{"subitem_1551255647225":"[総説]ヒトゲノム研究の現状と今後の展望","subitem_1551255648112":"ja"},{"subitem_1551255647225":"[Review]Genetic study for life-style diseases – update and future perspectives-","subitem_1551255648112":"en"}]},"item_1617186419668":{"attribute_name":"Creator","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"前田, 士郎","creatorNameLang":"ja"}]},{"creatorNames":[{"creatorName":"Maeda, Shiro","creatorNameLang":"en"}]}]},"item_1617186476635":{"attribute_name":"Access Rights","attribute_value_mlt":[{"subitem_1522299639480":"open access","subitem_1600958577026":"http://purl.org/coar/access_right/c_abf2"}]},"item_1617186499011":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_1522650717957":"ja","subitem_1522651041219":"琉球医学会"}]},"item_1617186609386":{"attribute_name":"Subject","attribute_value_mlt":[{"subitem_1522299896455":"ja","subitem_1522300014469":"NDC","subitem_1523261968819":"490"}]},"item_1617186626617":{"attribute_name":"Description","attribute_value_mlt":[{"subitem_description":"ゲノムワイド関連解析(GWAS)は、ありふれた病気の疾患感受性を規定しているのは、ありふれた個人差であるという仮説、いわゆるcommon disease-common variant仮説に立脚している。事実、GWASで同定された領域は単独での関与の弱いcommon variantに限定されている。common disease-common variant仮説、マーカーとしての一塩基多型、連鎖不平衡マッピング、DWAS、日本人における2型糖尿病GWAS、遺伝学的に独特な集団を用いた解析の有用性について述べた。","subitem_description_type":"Other"},{"subitem_description":"After completion of the human genome project, genome-wide association studies (GWAS) have been introduced worldwide, and have identified thousands of confirmed susceptibility loci for many common diseases. In case of type 2 diabetes, over 80 confirmed loci have been identified, and many of them were identified through GWAS in populations of European descent. Some of the European GWAS derived loci have been shown to confer similar susceptibility to type 2 diabetes in non-European populations, including the Japanese. However, integration of all these genetic information can explain only a small percentage (～10%) of the heritability of the disease, and thus most of the genetic factors for type 2 diabetes still remain to be identified, especially in non-European populations. Cumulative evidence suggests that Asians may be more genetically susceptible to type 2 diabetes than populations of European ancestry. Also, there are significant interethnic differences in the risk allele frequency or in effect sizes at several loci, which may affect the power to detect associations in these populations. Therefore, it is considered to be relevant to perform GWAS for type 2 diabetes using non-European populations as well as European populations to uncover the missing heritability of type 2 diabetes. In 2008, two GWAS conducted in Japanese populations have identified KCNQ1 as a novel susceptibility locus for type 2 diabetes. We further performed an independent GWAS for 459,359 SNPs in 7,541 Japanese individuals (4,470 type 2 diabetes and 3,071 controls), and identified two new loci UBE2E2 and C2CD4A-C2CD4B. Subsequent extended analyses for 2,229,890 imputed SNPs additionally identified ANK1 locus as a new locus for type 2 diabetes, and additional 3 loci were identified by expanded GWAS examining 26,805 Japanese individuals for 6,209,637 SNPs. Furthermore, in an effort of Asian Genetic Epidemiology Network (AGEN), 8 new loci were identified by a meta-analysis of East Asian GWAS. The associations of KCNQ1, C2CD4A-C2CD4B and ANK1 with type 2 diabetes were consistently observed among European populations, underlining the importance of examining non-European populations through GWAS. Further efforts for increasing sample size by scale-upped non-European GWAS or GWAS using isolated populations will help us identify not only ethnicity-specific loci, but also common-susceptibility loci among different ethnic groups, although new approaches other than GWAS, such as whole genome sequencing, will be required to elucidate a heritability of common diseases more precisely.","subitem_description_type":"TableOfContents"},{"subitem_description":"雑誌掲載論文","subitem_description_type":"Other"}]},"item_1617186643794":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_1522300295150":"ja","subitem_1522300316516":"琉球医学会"}]},"item_1617186702042":{"attribute_name":"Language","attribute_value_mlt":[{"subitem_1551255818386":"jpn"}]},"item_1617186920753":{"attribute_name":"Source Identifier","attribute_value_mlt":[{"subitem_1522646500366":"ISSN","subitem_1522646572813":"1346-888X"},{"subitem_1522646500366":"NCID","subitem_1522646572813":"AN10369445"}]},"item_1617186941041":{"attribute_name":"Source Title","attribute_value_mlt":[{"subitem_1522650068558":"ja","subitem_1522650091861":"琉球医学会誌 = Ryukyu Medical Journal"}]},"item_1617187056579":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueNumber":"1･2","bibliographicPageEnd":"8","bibliographicPageStart":"1","bibliographicVolumeNumber":"34"}]},"item_1617258105262":{"attribute_name":"Resource Type","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_1617265215918":{"attribute_name":"Version Type","attribute_value_mlt":[{"subitem_1522305645492":"VoR","subitem_1600292170262":"http://purl.org/coar/version/c_970fb48d4fbd8a85"}]},"item_1617605131499":{"attribute_name":"File","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","filename":"v34p1.pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://u-ryukyu.repo.nii.ac.jp/record/2016873/files/v34p1.pdf"},"version_id":"e2fb33c9-8bb4-401e-be55-ca4dedd14d61"}]},"item_title":"[総説]ヒトゲノム研究の現状と今後の展望","item_type_id":"15","owner":"1","path":["1642838230007","1642838412624"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2017-08-02"},"publish_date":"2017-08-02","publish_status":"0","recid":"2016873","relation_version_is_last":true,"title":["[総説]ヒトゲノム研究の現状と今後の展望"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-05-20T07:38:13.685641+00:00"}