{"id":"NHA000203","research":"hum0197","url":"https://humandbs.dbcls.jp/dataset/NHA000203","datePublished":"2025-10-27","dateModified":"2025-10-27","values":[{"key":"access-criteria","label":{"ja":"アクセス制限","en":"Access criteria"},"type":"vocabulary","terms":[{"code":"unrestricted-access","label":{"ja":"非制限公開","en":"Unrestricted-access"}}]},{"key":"type-of-data","label":{"ja":"データの種類","en":"Type of data"},"type":"text","text":{"ja":"臨床形質およびメタボローム374形質に対するゲノムワイド遺伝子環境交互作用解析","en":"Genome-wide gene-environment interaction studies for clinical traits and metabolites (374 phenotypes)"}}],"experiments":[{"label":"genome wide SNPs","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"バイオバンク・ジャパン（166,757名）、UKバイオバンク（273,453名）\n（ICD 10：E11, I20, I21, I22, I23, I24, I25, I44, I45, I46, I47, I48, I49, E78, I60, I61, I62, I63, I64, H25, H26, H28, J45, J46, N20, N21, N22, J30.2）\n形質数：374","en":"BioBank Japan (n=166,757), UK Biobank (n=273,453)\n(ICD 10: E11, I20, I21, I22, I23, I24, I25, I44, I45, I46, I47, I48, I49, E78, I60, I61, I62, I63, I64, H25, H26, H28, J45, J46, N20, N21, N22, J30.2)\nno. Phenotypes: 374"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"E11","label":{"ja":"２型＜インスリン非依存性＞糖尿病＜NIDDM＞","en":"Type 2 diabetes mellitus"}},{"code":"I20","label":{"ja":"狭心症","en":"Angina pectoris"}},{"code":"I21","label":{"ja":"急性心筋梗塞","en":"Acute myocardial infarction"}},{"code":"I22","label":{"ja":"再発性心筋梗塞","en":"Subsequent myocardial infarction"}},{"code":"I23","label":{"ja":"急性心筋梗塞の続発合併症","en":"Certain current complications following acute myocardial infarction"}},{"code":"I24","label":{"ja":"その他の急性虚血性心疾患","en":"Other acute ischaemic heart diseases"}},{"code":"I25","label":{"ja":"慢性虚血性心疾患","en":"Chronic ischaemic heart disease"}},{"code":"I44","label":{"ja":"房室ブロック及び左脚ブロック","en":"Atrioventricular and left bundle-branch block"}},{"code":"I45","label":{"ja":"その他の伝導障害","en":"Other conduction disorders"}},{"code":"I46","label":{"ja":"心停止","en":"Cardiac arrest"}},{"code":"I47","label":{"ja":"発作性頻拍（症）","en":"Paroxysmal tachycardia"}},{"code":"I48","label":{"ja":"心房細動及び粗動","en":"Atrial fibrillation and flutter"}},{"code":"I49","label":{"ja":"その他の不整脈","en":"Other cardiac arrhythmias"}},{"code":"E78","label":{"ja":"リポタンパク＜蛋白＞代謝障害及びその他の脂血症","en":"Disorders of lipoprotein metabolism and other lipidaemias"}},{"code":"I60","label":{"ja":"くも膜下出血","en":"Subarachnoid haemorrhage"}},{"code":"I61","label":{"ja":"脳内出血","en":"Intracerebral haemorrhage"}},{"code":"I62","label":{"ja":"その他の非外傷性頭蓋内出血","en":"Other nontraumatic intracranial haemorrhage"}},{"code":"I63","label":{"ja":"脳梗塞","en":"Cerebral infarction"}},{"code":"I64","label":{"ja":"脳卒中，脳出血又は脳梗塞と明示されないもの","en":"Stroke, not specified as haemorrhage or infarction"}},{"code":"H25","label":{"ja":"老人性白内障","en":"Senile cataract"}},{"code":"H26","label":{"ja":"その他の白内障","en":"Other cataract"}},{"code":"H28","label":{"ja":"他に分類される疾患における白内障及び水晶体のその他の障害","en":"Cataract and other disorders of lens in diseases classified elsewhere"}},{"code":"J45","label":{"ja":"喘息","en":"Asthma"}},{"code":"J46","label":{"ja":"喘息発作重積状態","en":"Status asthmaticus"}},{"code":"N20","label":{"ja":"腎結石及び尿管結石","en":"Calculus of kidney and ureter"}},{"code":"N21","label":{"ja":"下部尿路結石","en":"Calculus of lower urinary tract"}},{"code":"N22","label":{"ja":"他に分類される疾患における尿路結石","en":"Calculus of urinary tract in diseases classified elsewhere"}},{"code":"J302","label":{"ja":"その他の季節性アレルギー性鼻炎＜鼻アレルギー＞","en":"Other seasonal allergic rhinitis"}}],"name":{}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"mixed","label":{"ja":"混在","en":"Mixed"}}]},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":440210,"unit":null,"high":null}]},{"key":"subject-count-type","label":{"ja":"対象者数の数え方","en":"Counted as"},"type":"vocabulary","terms":[{"code":"individual","label":{"ja":"人数","en":"Individual"}}]},{"key":"cohort","label":{"ja":"コホート","en":"Cohort"},"type":"vocabulary","terms":[{"code":"biobank-japan","label":{"en":"BioBank Japan"}},{"code":"uk-biobank","label":{"en":"UK Biobank"}}]},{"key":"population","label":{"ja":"対象集団","en":"Population"},"type":"vocabulary","terms":[{"code":"japanese","label":{"ja":"日本人","en":"Japanese"}},{"code":"british","label":{"ja":"イギリス人","en":"British"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"末梢血から抽出したDNA","en":"DNAs extracted from peripheral blood cells"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"peripheral-blood","label":{"ja":"末梢血","en":"Peripheral blood"}}]},{"key":"is-tumor","label":{"ja":"腫瘍 / 非腫瘍","en":"Tumor / normal"},"type":"vocabulary","terms":[{"code":"normal","label":{"ja":"非腫瘍","en":"Normal"}}]},{"key":"sample-provider","label":{"ja":"試料の入手元","en":"Sample provider"},"type":"text","text":{"ja":null,"en":null}},{"key":"experimental-method","label":{"ja":"実験方法","en":"Experimental method"},"type":"vocabulary","terms":[{"code":"genotyping-by-array","label":{"en":"Genotyping by array"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":null,"en":null}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"humanomniexpressexome-beadchip-kit","label":{"en":"HumanOmniExpressExome BeadChip Kit"}},{"code":"humanomniexpress-beadchip-kit","label":{"en":"HumanOmniExpress BeadChip Kit"}},{"code":"humanexome-beadchip-kit","label":{"en":"HumanExome BeadChip Kit"}},{"code":"uk-bileve-axiom-array","label":{"en":"UK BiLEVE Axiom Array"}},{"code":"uk-biobank-axiom-array","label":{"en":"UK Biobank Axiom Array"}}]},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-humanomniexpressexome","label":{"en":"Illumina HumanOmniExpressExome"}},{"code":"illumina-humanomniexpress","label":{"en":"Illumina HumanOmniExpress"}},{"code":"illumina-humanexome","label":{"en":"Illumina HumanExome"}},{"code":"applied-biosystems-uk-bileve-axiom-array","label":{"en":"Applied Biosystems UK BiLEVE Axiom Array"}},{"code":"applied-biosystems-uk-biobank-axiom-array","label":{"en":"Applied Biosystems UK Biobank Axiom Array"}}]},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"臨床形質：: imputation quality > 0.7、minor allele frequency (MAF) > 0.01、autosomal variants\nメタボローム：上記に加え (i) genotyped variants、 (ii) HapMap3 variants、 (iii) BBJまたはUKBBにおいて少なくとも1つの臨床形質についてP_G×E < 1.0×10^-7となる変異、に限定","en":"Clinical Phenotypes: imputation quality > 0.7, minor allele frequency (MAF) > 0.01, autosomal variants\nMetabolome: further restricted to (i) genotyped variants, (ii) HapMap3 variants, and (iii) the variants with P_G×E < 1.0×10^-7 in BBJ or UKBB for at least one of the clinical traits"}},{"key":"imputation","label":{"ja":"インピュテーション","en":"Imputation"},"type":"text","text":{"ja":"BBJ：Eagle、Minimac3\nUK Biobank：IMPUTE4","en":"BBJ: Eagle, Minimac3\nUK Biobank: IMPUTE4"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"GEM","en":"GEM"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":7444735,"unit":null,"high":null,"prefix":{"ja":"BBJ: ","en":"BBJ: "},"suffix":{"ja":" (臨床形質)","en":" (Clinical traits)"}},{"value":1009566,"unit":null,"high":null,"suffix":{"ja":" (メタボローム)","en":" (Metabolome)"}},{"value":9813264,"unit":null,"high":null,"prefix":{"ja":"UK Biobank: ","en":"UK Biobank: "},"suffix":{"ja":" (臨床形質)","en":" (Clinical traits)"}},{"value":1478430,"unit":null,"high":null,"suffix":{"ja":" (メタボローム)","en":" (Metabolome)"}}]},{"key":"has-phenotype-data","label":{"ja":"表現型データの有無","en":"Phenotype data"},"type":"vocabulary","terms":[{"code":"included","label":{"ja":"あり","en":"Included"}}]},{"key":"policies","label":{"ja":"利用ポリシー","en":"Data use policy"},"type":"vocabulary","terms":[{"code":"nbdc-data-sharing-policy-jgap000001","label":{"ja":"NBDC データ共有ポリシー (JGAP000001)","en":"NBDC data sharing policy (JGAP000001)"}}]}]}],"fileFormats":[{"code":"txt","label":{"en":"TXT"}},{"code":"xlsx","label":{"en":"XLSX"}}]}