{"id":"hum0261","version":2,"url":"https://humandbs.dbcls.jp/research/hum0261/v2","datePublished":"2021-01-19","versions":[{"version":1,"datePublished":"2021-01-08"},{"version":2,"datePublished":"2021-01-19"}],"title":{"ja":"原発性胆汁性胆管炎の病態解明のためのゲノムワイド関連解析 - 1,000 症例の追加解析","en":"Genome-wide association study of primary biliary cholangitis (PBC) - an additional study of 1,000 Japanese PBC patients"},"summary":{"aims":{"ja":"日本人原発性胆汁性胆管炎（Primary Biliary Cholangitis：PBC）の発症に関わる遺伝因子の網羅的解析","en":"Genome-wide search for susceptibility genes for primary biliary cholangitis (PBC)"},"methods":{"ja":"領域内遺伝率推定法（Regional Heritability Mapping：RHM）、ゲノムワイド関連解析（Genome-Wide Association Study：GWAS）","en":"Regional Heritability Mapping (RHM) and Genome-wide Association Study (GWAS)"},"targets":{"ja":"PBC 1,953症例、健常対照者 3,690名","en":"1,953 PBCs and 3,690 healthy controls"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"領域内遺伝率推定\nゲノムワイド関連","en":"Regional heritability estimation, Genome-wide association"},"targets":{"ja":"原発性胆汁性胆管炎：1,953症例\n健常対照者：3,690名\n（日本人）","en":"1,953 PBCs and 3,690 healthy controls\n(Japanese)"},"typeOfData":{"ja":"SNP-chip","en":"SNP-chip"}},"releaseNote":{"ja":"原発性胆汁性胆管炎1,920症例および健常対照者1,770名の末梢血より抽出したDNAを対象とし、SNPアレイによりGenotypeを決定し、GWAS解析を行った結果をtsv fileにて提供する。","en":"DNAs extracted from 1,920 PBCs and 1,770 healthy controls were genotyped by using of Affymetrix Axiom Genome-Wide ASI 1 Array and Japonica Array v1 and genome-wide association study was performed (tsv file)."},"dataProviders":[{"name":{"ja":"中村 稔","en":"Minoru Nakamura"},"organization":{"name":{"ja":"国立病院機構長崎医療センター＆長崎大学大学院医歯薬学総合研究科 新興感染症病態制御学系専攻肝臓病学講座","en":"NHO Nagasaki Medical Center & Nagasaki University Graduate School of Biomedical Sciences Division of Advanced Research, Department of Hepatology"}}}],"researchProjects":[{"name":{"ja":"PBC Consortium in Japan（PBCCJP）","en":"PBC Consortium in Japan (PBCCJP)"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"原発性胆汁性肝硬変の新しい病型分類と長期予後診断法の確立","en":"New clinical classification and the criteria for predicting long-term outcome in primary biliary cirrhosis"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["20590800"]},{"title":{"ja":"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","en":"Genome-wide association study to detect disease-associated genes in Japanese patients with primary biliary cirrhosis"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["23591006"]},{"title":{"ja":"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","en":"Analysis of disease-pathways and molecular targets by disease-susceptibility genes in primary biliary cholangitis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["26293181"]},{"title":{"ja":"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","en":"Genomic analysis of traits related to metabolic syndrome and chronic kidney disease"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["18K14757"]},{"title":{"ja":"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","en":"Analysis of molecular mechanisms involved in progression to jaundice and liver failure in primary biliary cholangitis"},"agency":{"ja":"科学研究費助成事業 若手研究（B）","en":"KAKENHI Grant-in-Aid for Young Scientists (B)"},"grantIds":["15K19357"]},{"title":{"ja":"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","en":"The role of cathepsin Z for liver failure-type progression in primary biliary cholangitis"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["17K09449"]},{"title":{"ja":"原発性胆汁性胆管炎の発症と重症化機構解明のためのGWASを基盤とした統合解析","en":"GWAS-based integrated analysis of PBC to dissect the mechanism of development and progression of primary biliary cholangitis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["17H04169"]}],"relatedPublications":[{"title":"Integrated GWAS and mRNA Microarray Analysis Identified IFNG and CD40L as the Central Upstream Regulators in Primary Biliary Cholangitis.","doi":"https://doi.org/10.1002/hep4.1497","datasets":["NHA000158"]}],"datasets":["NHA000157","NHA000156","NHA000158"],"controlledAccessUsers":[]}