{"id":"hum0027","version":1,"url":"https://humandbs.dbcls.jp/research/hum0027/v1","datePublished":"2016-07-28","versions":[{"version":1,"datePublished":"2016-07-28"}],"title":{"ja":"侵襲性歯周炎のヒト全ゲノム解析と遺伝子多型解析","en":"Identification of genetic polymorphism on aggressive periodontitis"},"summary":{"aims":{"ja":"侵襲性歯周炎罹患者の全エクソン領域を解読することにより、（1）侵襲性歯周炎データベースの作成、および（2）侵襲性歯周炎の疾患関連遺伝子（一塩基多型および挿入欠失）の探索を行い、関連遺伝子について機能解析を実施することで、侵襲性歯周炎の予防・診断・治療方針の確立を目指す。","en":"To identify polymorphisms (SNP and Indel) of responsible genes for Japanese aggressive periodontitis by whole exon sequencing (WES) analysis. Then, functional analyses forf the responsible genes were assessed by in vivo/vitro biological experiments."},"methods":{"ja":"Illumina HiSeq 2000を使用したExome解析","en":"WES by using of HiSeq 2000 (Illumina)."},"targets":{"ja":"侵襲性歯周炎患者44症例（アメリカ歯周病学会の診断基準に基づき診断）","en":"44 Japanese aggressive periodontitis patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"侵襲性歯周炎：44症例\n（日本人）","en":"Periodontitis patients\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"侵襲性歯周炎44症例より提供された末梢血からDNAを抽出し、全エクソーム配列を解読した結果をFastq/bam/vcfファイルにて提供する。\nAgilent SureSelect Human All Exon V5（50M）kitを用いてExon領域にしぼり、HiSeq 2000にて150 bpのDNA断片を解読した（Paired-end）。","en":"gDNAs extracted from peripheral blood cells of 44 Japanese aggressive periodontitis patients were used for whole exon sequencing (fastq files). Exons were captured using Agilent SureSelect Human All Exon V5 (50M) kit and a multiplex sequence was performed with the Illumina HiSeq 2000 sequencer (150 bp, Paired-end)."},"dataProviders":[{"name":{"ja":"村上 伸也","en":"Shinya Murakami"},"organization":{"name":{"ja":"大阪大学大学院 歯学研究科","en":"Division of Oral Biology and Disease Control, Department of Periodontology, Osaka University Graduate School of Dentistry"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ゲノムワイドアプローチによる歯周病疾患関連遺伝子探索の新展開","en":"Identification of genetic risk factors on aggressive periodontitis in a Japanese population"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["15H02579"]},{"title":{"ja":"マトリックス分解酵素カテプシンAが歯周組織再生に及ぼす影響","en":"Effects of cathepsin A on the regeneration of periodontal tissue"},"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":["15K11385"]}],"relatedPublications":[],"datasets":["JGAD000024","JGAD000040"],"controlledAccessUsers":[]}