{"id":"hum0126","version":2,"url":"https://humandbs.dbcls.jp/research/hum0126/v2","datePublished":"2020-09-01","versions":[{"version":1,"datePublished":"2018-04-27"},{"version":2,"datePublished":"2020-09-01"}],"title":{"ja":"小児ネフローゼ症候群の疾患感受性遺伝子及び薬剤感受性遺伝子同定研究","en":"Identification of the disease and drug susceptibility genes for the Childhood Idiopathic Nephrotic Syndrome"},"summary":{"aims":{"ja":"小児ネフローゼ症候群の疾患感受性遺伝子を、ゲノムワイド関連解析（GWAS）等を用いて同定し、その発症機序の解明に資する","en":"To identify the novel disease susceptibility genes for Childhood Idiopathic Nephrotic Syndrome"},"methods":{"ja":"GWAS","en":"GWAS"},"targets":{"ja":"対照健常者419名、および、成人期に移行した症例も含め小児期に発症したネフローゼ症候群224症例","en":"Healthy controls and Childhood Idiopathic Nephrotic Syndrome patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"ゲノムワイド関連","en":"Genome-wide association"},"targets":{"ja":"小児ネフローゼ症候群：224＋3,206症例\n対照健常者：419＋987名\n（日本人）","en":"224 + 3,206 Childhood Idiopathic Nephrotic Syndrome patients\n419 + 987 healthy controls\n(Japanese)"},"typeOfData":{"ja":"SNP-chip","en":"SNP-chip"}},"releaseNote":{"ja":"小児ネフローゼ症候群987症例および対照健常者3,206名の末梢血より抽出したDNAを対象とし、SNPアレイ（Affymetrix Japonica Array v1およびv2）によりGenotypeを決定し、GWASを実施した結果（Imputation後データ）をcsv fileにて提供する。","en":"DNAs extracted from 3,206 Childhood Idiopathic Nephrotic Syndrome patients and 987 healthy adult controls were genotyped by using of Affymetrix Japonica Array v1 and a genome-wide association study was performed (csv file)."},"dataProviders":[{"name":{"ja":"飯島 一誠","en":"Kazumoto Iijima"},"organization":{"name":{"ja":"神戸大学大学院 医学研究科 内科系講座 小児科学分野","en":"Department of Pediatrics, Kobe University Graduate School of Medicine"}}}],"researchProjects":[{"name":{"ja":"The Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan","en":"The Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"小児ネフローゼ症候群の疾患感受性遺伝子及び薬剤感受性遺伝子同定研究","en":"Identification of disease susceptible genes and drug sensitive genes in childhood nephrotic syndrome"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現推進プラットフォーム事業","en":"Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP17km0405108"]},{"title":{"ja":"小児ネフローゼ症候群疾患感受性遺伝子及び薬剤感受性遺伝子同定のための国際共同研究","en":"Joint International Research for identification of disease-susceptible genes and drug-sensitive genes in childhood nephrotic syndrome"},"agency":{"ja":"科学研究費助成事業 国際共同研究加速基金（国際共同研究強化（B））","en":"KAKENHI Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))"},"grantIds":["18KK0244"]}],"relatedPublications":[{"title":"Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.","doi":"https://doi.org/10.1681/ASN.2017080859","datasets":["NHA000069"]},{"title":"Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.","doi":"https://doi.org/10.1016/j.kint.2020.05.029","datasets":["NHA000153"]}],"datasets":["NHA000069","NHA000153"],"controlledAccessUsers":[]}