{"id":"NHA000173","research":"hum0197","url":"https://humandbs.dbcls.jp/dataset/NHA000173","datePublished":"2022-06-16","dateModified":"2022-06-16","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":"9形質のGWAS","en":"GWAS for 9 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（161,801名）、UKバイオバンク（377,581名）\n疾患群：自己免疫疾患 [関節リウマチ（ICD10：M05）、バセドウ病（ICD10：E050）、1型糖尿病（ICD10：E10）]\nアレルギー疾患 [気管支喘息（ICD10：J45）、アトピー性皮膚炎（ICD10：L20）、花粉症（ICD10：J301）]\n対照群：自己免疫・アレルギー疾患を有さない登録者\n（各コホート内で疾患群間にはサンプルオーバーラップあり）\n形質数：9","en":"Biobank Japan (n=161,801), UK biobank (n=377,583), no. Phenotypes: 9\nPatients: Autoimmune [Rheumatoid arthritis (ICD10: M05), Graves' disease (ICD10: E050), type I diabetes mellitus (ICD10: E10)]\nAllergy [asthma (ICD10: J45), Atopic dermatitis (ICD10: L20), Pollinosis (ICD10: J301)]\nControls: non-autoimmune +non-allergy individuals\n(There is overlap among patients in each disease category)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"M05","label":{"ja":"血清反応陽性関節リウマチ","en":"Seropositive rheumatoid arthritis"}}],"name":{"ja":"関節リウマチ","en":"Rheumatoid arthritis"}},{"terms":[{"code":"E050","label":{"ja":"びまん性甲状腺腫を伴う甲状腺中毒症","en":"Thyrotoxicosis with diffuse goitre"}}],"name":{"ja":"バセドウ病","en":"Graves' disease"}},{"terms":[{"code":"E10","label":{"ja":"１型＜インスリン依存性＞糖尿病＜IDDM＞","en":"Type 1 diabetes mellitus"}}],"name":{"ja":"1型糖尿病","en":"type I diabetes mellitus"}},{"terms":[{"code":"J45","label":{"ja":"喘息","en":"Asthma"}}],"name":{"ja":"気管支喘息","en":"asthma"}},{"terms":[{"code":"L20","label":{"ja":"アトピー性皮膚炎","en":"Atopic dermatitis"}}],"name":{"ja":"アトピー性皮膚炎","en":"Atopic dermatitis"}},{"terms":[{"code":"J301","label":{"ja":"花粉によるアレルギー性鼻炎＜鼻アレルギー＞","en":"Allergic rhinitis due to pollen"}}],"name":{"ja":"花粉症","en":"Pollinosis"}}]},{"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":"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":"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":"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":"Rsq < 0.7 および MAF < 0.005 のバリアントを除外","en":"We excluded the variants with Rsq < 0.7 and MAF < 0.005."}},{"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":"SAIGE software was used with age, sex, and top five principal components as covariates\nRE2C software was used for the multi-trait meta-analysis adjusting for sample overlap between GWAS summary data","en":"SAIGE software was used with age, sex, and top five principal components as covariates.\nRE2C software was used for the multi-trait meta-analysis adjusting for sample overlap between GWAS summary data."}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":8374220,"unit":null,"high":null,"prefix":{"ja":"BBJ（個々の形質）: ","en":"BBJ (individual trait): "},"suffix":{"ja":" variants (常染色体)","en":" variants (Autosomes)"}},{"value":8369174,"unit":null,"high":null,"prefix":{"ja":"BBJ（メタ解析）: ","en":"BBJ (meta-analysis): "},"suffix":{"ja":" variants (常染色体)","en":" variants (Autosomes)"}},{"value":10864380,"unit":null,"high":null,"prefix":{"ja":"UK Biobank（個々の形質）: ","en":"UK Biobank (individual trait): "},"suffix":{"ja":" variants (常染色体)","en":" variants (Autosomes)"}},{"value":10858065,"unit":null,"high":null,"prefix":{"ja":"UK Biobank（メタ解析）: ","en":"UK Biobank (meta-analysis): "},"suffix":{"ja":" variants (常染色体)","en":" variants (Autosomes)"}},{"value":5965154,"unit":null,"high":null,"prefix":{"ja":"BBJ＋UK Biobank（メタ解析）: ","en":"BBJ+UK Biobank (meta-analysis): "},"suffix":{"ja":" variants (常染色体)","en":" variants (Autosomes)"}}]},{"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":"docx","label":{"en":"DOCX"}},{"code":"zip","label":{"en":"ZIP"}}]}