{"id":"NHA000209","research":"hum0197","url":"https://humandbs.dbcls.jp/dataset/NHA000209","datePublished":"2026-07-31","dateModified":"2026-07-31","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":"多発性硬化症のGWAS統計量","en":"GWAS for multiple sclerosis"}}],"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":"多発性硬化症（MS）（ICD10：G35）：\n日本人集団 MS 688症例、対照健常者205,199名\nヨーロッパ人集団 MS 27,572症例、対照健常者1,436,801名\nアフリカ人集団 MS 819症例、対照健常者155,904名\nアメリカ人集団（MS 295症例、対照健常者45,569名）を加えた多祖先集団 MS 29,374症例、対照健常者1,843,563名","en":"multiple sclerosis (MS) (ICD10: G35):\nJapanese: 688 MS patients and 205,199 controls\nEuropean: 27,572 MS patients and 1,436,801 controls\nAfrican: 819 MS patients and 155,904 controls\nCross-population: 29,374 MS patients and 1,843,563 controls (293 MS patients and 45,569 controls in the US population was included)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"G35","label":{"ja":"多発性硬化症","en":"Multiple sclerosis"}}],"name":{"ja":"多発性硬化症（MS）","en":"multiple sclerosis (MS)"}}]},{"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":1872937,"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":"population","label":{"ja":"対象集団","en":"Population"},"type":"vocabulary","terms":[{"code":"japanese","label":{"ja":"日本人","en":"Japanese"}},{"code":"european","label":{"ja":"ヨーロッパ人","en":"European"}},{"code":"african","label":{"ja":"アフリカ系","en":"African"}},{"code":"american","label":{"ja":"アメリカ人","en":"American"}}]},{"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-infinium-asian-screening-array","label":{"en":"Illumina Infinium Asian Screening Array"}},{"code":"illumina-humanomniexpressexome","label":{"en":"Illumina HumanOmniExpressExome"}},{"code":"illumina-humanomniexpress","label":{"en":"Illumina HumanOmniExpress"}},{"code":"illumina-humanexome","label":{"en":"Illumina HumanExome"}}]},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"Sample QC:\n日本人集団: We excluded samples with a genotyping call rate < 0.98. We included samples of estimated East Asian ancestry, based on principal component analysis (PCA)\nUK Biobank: We included samples based on the following criteria: (1) concordant with sex information, (2) genotyping call rate > 0.95, (3) heterozygosity rate < +3 S.D., and (4) the white British subset previously reported.\nAll of Us: We included samples based on the following criteria: (1) genotyping call rate > 0.98, (2) heterozygosity rate < +3 S.D., and (3) subjects of European, African and American ancestries identified by PCA-based criteria.\nGenomics England: We included samples of European ancestry, identified by PCA-based criteria.\nPost-imputation QC:\nWe excluded variants with Rsq < 0.7 or minor allele frequency (MAF) < 0.5% (1% for All of Us) .","en":"Sample QC:\nJapanese: We excluded samples with a genotyping call rate < 0.98. We included samples of estimated East Asian ancestry, based on principal component analysis (PCA).\nUK Biobank: We included samples based on the following criteria: (1) concordant with sex information, (2) genotyping call rate > 0.95, (3) heterozygosity rate < +3 S.D., and (4) the white British subset previously reported.\nAll of Us: We included samples based on the following criteria: (1) genotyping call rate > 0.98, (2) heterozygosity rate < +3 S.D., and (3) subjects of European, African and American ancestries identified by PCA-based criteria.\nGenomics England: We included samples of European ancestry, identified by PCA-based criteria.\nPost-imputation QC:\nWe excluded variants with Rsq < 0.7 or minor allele frequency (MAF) < 0.5% (1% for All of Us)."}},{"key":"imputation","label":{"ja":"インピュテーション","en":"Imputation"},"type":"text","text":{"ja":"ハプロタイプフェージング: SHAPEIT4\nインピュテーション: Minimac4","en":"Haplotype phasing: SHAPEIT4\nImputation: Minimac4"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"遺伝子型決定: GenomeStudio\n関連解析: SAIGE、REGENIE、METAL","en":"Genotyping: GenomeStudio\nAssociation analysis: SAIGE, REGENIE, METAL"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":8858017,"unit":null,"high":null,"prefix":{"ja":"日本人集団: ","en":"Japanese population: "},"suffix":{"ja":" variants","en":" variants"}},{"value":9970295,"unit":null,"high":null,"prefix":{"ja":"ヨーロッパ人集団: ","en":"European population: "},"suffix":{"ja":" variants","en":" variants"}},{"value":12996649,"unit":null,"high":null,"prefix":{"ja":"アフリカ人集団: ","en":"African population: "},"suffix":{"ja":" variants","en":" variants"}},{"value":19056190,"unit":null,"high":null,"prefix":{"ja":"多祖先集団: ","en":"Multi-ancestry population: "},"suffix":{"ja":" variants","en":" variants"}}]},{"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":"zip","label":{"en":"ZIP"}}]}