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dc.contributor.author | Gervais, Olivier | en |
dc.contributor.author | Ueno, Kazuko | en |
dc.contributor.author | Kawai, Yosuke | en |
dc.contributor.author | Hitomi, Yuki | en |
dc.contributor.author | Aiba, Yoshihiro | en |
dc.contributor.author | Ueta, Mayumi | en |
dc.contributor.author | Nakamura, Minoru | en |
dc.contributor.author | Tokunaga, Katsushi | en |
dc.contributor.author | Nagasaki, Masao | en |
dc.contributor.alternative | ジェルベ, オリビエ | ja |
dc.contributor.alternative | 植野, 和子 | ja |
dc.contributor.alternative | 河合, 洋介 | ja |
dc.contributor.alternative | 人見, 祐基 | ja |
dc.contributor.alternative | 相葉, 佳洋 | ja |
dc.contributor.alternative | 上田, 真由美 | ja |
dc.contributor.alternative | 中村, 稔 | ja |
dc.contributor.alternative | 徳永, 勝士 | ja |
dc.contributor.alternative | 長﨑, 正朗 | ja |
dc.date.accessioned | 2021-04-23T04:23:15Z | - |
dc.date.available | 2021-04-23T04:23:15Z | - |
dc.date.issued | 2021-04-09 | - |
dc.identifier.uri | http://hdl.handle.net/2433/262593 | - |
dc.description | 原発性胆汁性胆管炎の新たな遺伝要因を同定 --ヒト全ゲノム領域へのRHM法による世界初の成果--. 京都大学プレスリリース. 2021-04-09. | ja |
dc.description.abstract | While the advent of GWAS more than a decade ago has ushered in remarkable advances in our understanding of complex traits, the limitations of single-SNP analysis have also led to the development of several other approaches. Simulation studies have shown that the regional heritability mapping (RHM) method, which makes use of multiple adjacent SNPs jointly to estimate the genetic effect of a given region of the genome, generally has higher detection power than single-SNP GWAS. However, thus far its use has been mostly limited to agricultural settings, and its potential for the discovery of new genes in human diseases is yet to be fully exploited. In this study, by applying the RHM method to primary biliary cholangitis (PBC) in the Japanese population, we identified three novel loci (STAT4, ULK4, and KCNH5) at the genome-wide significance level, two of which (ULK4 and KCNH5) have not been found associated with PBC in any population previously. Notably, these genes could not be detected by using conventional single-SNP GWAS, highlighting the potential of the RHM method for the detection of new susceptibility loci in human diseases. These findings thereby provide strong empirical evidence that RHM is an effective and practical complementary approach to GWAS in this context. Also, liver tissue mRNA microarray analysis revealed higher gene expression levels in ULK4 in PBC patients (P < 0.01). Lastly, we estimated the common SNP heritability of PBC in the Japanese population (0.210 ± 0.026). | en |
dc.language.iso | eng | - |
dc.publisher | Springer Nature | en |
dc.rights | © The Author(s) 2021 | en |
dc.rights | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. | en |
dc.rights | The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. | en |
dc.rights | If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. | en |
dc.subject | Genome informatics | en |
dc.subject | Quantitative trait | en |
dc.title | Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population | en |
dc.type | journal article | - |
dc.type.niitype | Journal Article | - |
dc.identifier.jtitle | European Journal of Human Genetics | en |
dc.identifier.volume | 29 | - |
dc.identifier.spage | 1282 | - |
dc.identifier.epage | 1291 | - |
dc.relation.doi | 10.1038/s41431-021-00854-5 | - |
dc.textversion | publisher | - |
dc.address | Center for the Promotion of Interdisciplinary Education and Research, Kyoto University; Center for Genomic Medicine, Kyoto University; Tohoku Medical Megabank Organization, Tohoku University; Department of International Studies, College of International Relations, Nihon University | en |
dc.address | Genome Medical Science Project, National Center for Global Health and Medicine; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo | en |
dc.address | Genome Medical Science Project, National Center for Global Health and Medicine; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo | en |
dc.address | Department of Human Genetics, Graduate School of Medicine, The University of Tokyo; Department of Microbiology, Hoshi University School of Pharmacy and Pharmaceutical Sciences | en |
dc.address | Clinical Research Center, National Hospital Organization (NHO) Nagasaki Medical Center | en |
dc.address | Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine | en |
dc.address | Clinical Research Center, National Hospital Organization (NHO) Nagasaki Medical Center; Department of Hepatology, Nagasaki University Graduate School of Biomedical Sciences | en |
dc.address | Genome Medical Science Project, National Center for Global Health and Medicine; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo | en |
dc.address | Center for the Promotion of Interdisciplinary Education and Research, Kyoto University; Center for Genomic Medicine, Kyoto University; Tohoku Medical Megabank Organization, Tohoku University | en |
dc.identifier.pmid | 33833419 | - |
dc.relation.url | https://www.kyoto-u.ac.jp/ja/research-news/2021-04-09-0 | - |
dcterms.accessRights | open access | - |
datacite.awardNumber | 18K14757 | - |
datacite.awardNumber | 15K19357 | - |
datacite.awardNumber | 17K09449 | - |
datacite.awardNumber | 23591006 | - |
datacite.awardNumber | 26293181 | - |
datacite.awardNumber.uri | https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-18K14757/ | - |
datacite.awardNumber.uri | https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-15K19357/ | - |
datacite.awardNumber.uri | https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-17K09449/ | - |
datacite.awardNumber.uri | https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-23591006/ | - |
datacite.awardNumber.uri | https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-26293181/ | - |
jpcoar.funderName | 日本学術振興会 | ja |
jpcoar.funderName | 日本学術振興会 | ja |
jpcoar.funderName | 日本学術振興会 | ja |
jpcoar.funderName | 日本学術振興会 | ja |
jpcoar.funderName | 日本学術振興会 | ja |
jpcoar.awardTitle | ポリジェニックモデルによる慢性腎臓病・メタボリックシンドローム関連形質ゲノム解析 | ja |
jpcoar.awardTitle | 原発性胆汁性肝硬変の黄疸・肝不全型進行に関わる分子機構の解明 | ja |
jpcoar.awardTitle | 原発性胆汁性胆管炎の肝不全進行におけるカテプシンZの役割の解明 | ja |
jpcoar.awardTitle | 日本人原発性胆汁性肝硬変の病態形成に関わる遺伝因子同定のための網羅的遺伝子解析 | ja |
jpcoar.awardTitle | 原発性胆汁性肝硬変の疾患感受性遺伝子による病態の解明と新しい分子標的治療法の開発 | ja |
jpcoar.funderName.alternative | Japan Society for the Promotion of Science (JSPS) | en |
jpcoar.funderName.alternative | Japan Society for the Promotion of Science (JSPS) | en |
jpcoar.funderName.alternative | Japan Society for the Promotion of Science (JSPS) | en |
jpcoar.funderName.alternative | Japan Society for the Promotion of Science (JSPS) | en |
jpcoar.funderName.alternative | Japan Society for the Promotion of Science (JSPS) | en |
出現コレクション: | 学術雑誌掲載論文等 |
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