{"id":"hum0029","secondaryIds":[],"version":1,"url":"https://humandbs.dbcls.jp/research/hum0029/v1","datePublished":"2016-03-09","versions":[{"version":1,"datePublished":"2016-03-09"},{"version":2,"datePublished":"2020-12-21"}],"title":{"ja":"Stevens-Johnson症候群に対する遺伝子多型解析","en":"Study of Genome Polymorphism/Variation on Stevens-Johnson Syndrome"},"summary":{"aims":{"ja":"感冒薬を服用することによって発症するスティーブンス・ジョンソン症候群（SJS）の感受性遺伝子の同定","en":"Identification of new susceptibility gene(s) to cole medicine-related Stevens-Johnson syndrome (SJS)"},"methods":{"ja":"Affymetrix Axiom ASI 1 Arrayを使用して約60万個の一塩基多型（Single Nucleotide Polymorphisms：SNPs）の遺伝子型を決定後ゲノムワイド関連解析（Genome-Wide Association Study：GWAS）を実施","en":"SNP-based genome-wide association study"},"targets":{"ja":"SJS患者117名、対照健常者691名","en":"Patients with cold medicine-related SJS and healthy controls"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"日本人SJS117症例、および日本人対照健常者691名の449,205 SNPsの統計情報。\n遺伝子型決定には、Affymetrix [Axiom Genome-Wide ASI 1 Array]を使用している。","en":"SNP-based genome-wide association study for 117 SJS patients and 691 controls were performed using 449,205 SNPs (Affymetrix [Axiom Genome-Wide ASI 1 Array])."},"dataProviders":[{"name":{"ja":"上田 真由美","en":"Mayumi Ueta"},"organization":{"name":{"ja":"京都府立医科大学 医学研究科","en":"Kyoto Prefectural University of Medicine"}}}],"researchProjects":[{"name":{"ja":"感覚器未来医療学および眼科学教室","en":"Department of Frontier Medical Science and Technology for Ophthalmology"},"url":{"ja":[{"url":"https://frontier-medueta.com/","text":"https://frontier-medueta.com/"}],"en":[{"url":"https://frontier-medueta.com/english/index.html","text":"https://frontier-medueta.com/english/index.html"}]}}],"grants":[{"title":{"ja":"SJS/TENの発症機序解明および発症予測に向けた先駆的研究","en":"Pioneering research for elucidation of pathogenic mechanism and prediction of onset risk"},"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":["22390325"]},{"title":{"ja":"ゲノム科学の総合的推進に向けた大規模ゲノム情報生産・高度情報解析支援","en":"Genome Science"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["221S0002"]},{"title":{"ja":"感冒薬による重症薬疹発症に関わる遺伝素因の同定並びに病態の解明","en":"Genetic and Pathogenic studies on cold medicine-related severe drug adverse reactions"},"agency":{"ja":"オーダーメイド医療の実現プログラム","en":"Tailor-made Medical Treatment Program (BioBank Japan: BBJ)"},"grantIds":null}],"relatedPublications":[{"title":"IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement.","doi":"https://doi.org/10.1016/j.jaci.2014.12.1916","datasets":["NHA000049"]}],"datasets":["NHA000049"],"controlledAccessUsers":[]}