{"id":"hum0037","version":1,"url":"https://humandbs.dbcls.jp/research/hum0037/v1","datePublished":"2015-09-24","versions":[{"version":1,"datePublished":"2015-09-24"}],"title":{"ja":"関節リウマチ感受性遺伝子を用いた関節リウマチ病態の遺伝診断法の開発研究","en":"Diagnostic feasibility study for pathological prediction with rheumatoid arthritis-susceptible genes and genomic regions identified by the association analysis using microsatelite markers"},"summary":{"aims":{"ja":"関節リウマチ（Rheumatoid Arthritis：RA）感受性遺伝子の探索","en":"Searching for rare/low frequency variants in rheumatoid arthritis (RA)"},"methods":{"ja":"エクソーム解析によるRA感受性候補遺伝子の取得と、得られた候補遺伝子の症例対照研究による検証","en":"Obtaining of susceptible candidate genes for RA by exome sequencing and validation methods"},"targets":{"ja":"RA患者39症例、対照健常者10名分（女性5名分、男性5名分それぞれの検体を等量ずつ混ぜたPooled DNA）","en":"Patients with RA as cases and healthy individuals as controls"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"RA：39症例\n対照：10名（Pooled）\n（日本人）","en":"39 RAs\n10 Controls (pooled)\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"関節リウマチ患者39症例、男性健常者5名および女性健常者5名の末梢血から抽出したDNAを用いたExome解析を行なった。健常者群については、5名の検体を等量ずつ混ぜたPooled DNAを男女別に作成し解析に用いた。関節リウマチ患者39症例についてはBAM形式、健常者それぞれのPooled DNAについてはvcf形式にて提供する。SureSelect Human All Exon 50 Mb Kit（Agilent社）を用いてExon領域にしぼり、Illumin HiSeq 2000にて平均長100塩基のDNA断片を解読した（Paired-end）。","en":"Genomic DNAs extracted from peripheral blood cells of 39 RA patients and 10 healthy individuals (including 5 males and 5 females) were used for this study. Five gDNAs were equally mixed as a \"pooled DNA\" for healthy males. In the same way, a pooled DNA was prepared for healthy women. Exons were captured using the SureSelect Human All Exon 50 Mb Kit (Agilent) and multiplex sequence was performed with the Illumina HiSeq 2000 sequencer (100 bp, Paired-end). BAM files for 39 RAs and vcf files for 2 pooled DNAs were provided."},"dataProviders":[{"name":{"ja":"光永 滋樹","en":"Shigeki Mitsunaga"},"organization":{"name":{"ja":"東海大学医学部 基礎医学系分子生命科学","en":"Department of Molecular Life Sciences Division of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"リシーケンシングによる関節リウマチ感受性稀少変異の探索","en":"Exome sequencing for disease gene discovery in rheumatoid arthritis"},"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":["22510213"]}],"relatedPublications":[{"title":"Aggregation of rare/low-frequency variants of the mitochondria respiratory chain-related proteins in rheumatoid arthritis patients.","doi":"https://doi.org/10.1038/jhg.2015.50","datasets":["JGAD000035"]},{"title":"Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2.","doi":"https://doi.org/10.1038/jhg.2013.2","datasets":["JGAD000035"]}],"datasets":["JGAD000035"],"controlledAccessUsers":[]}