期刊
NATURE GENETICS
卷 47, 期 11, 页码 1228-+出版社
NATURE PORTFOLIO
DOI: 10.1038/ng.3404
关键词
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资金
- US National Institutes of Health [R01 MH101244, R01 HG006399, R03 CA173785, R21 CA182821, F32 GM106584, U01 HG0070033]
- Fannie and John Hertz Foundation
- Wellcome Trust Sanger Institute [WT098051]
- National Institute of General Medical Sciences [T32 GM007753]
- Arthritis Foundation
- Doris Duke Clinical Scientist Development Award
- Wellcome Trust [076113]
- US National Institutes of Health [R01 MH101244, R01 HG006399, R03 CA173785, R21 CA182821, F32 GM106584, U01 HG0070033]
- Fannie and John Hertz Foundation
- Wellcome Trust Sanger Institute [WT098051]
- National Institute of General Medical Sciences [T32 GM007753]
- Arthritis Foundation
- Doris Duke Clinical Scientist Development Award
- Wellcome Trust [076113]
- Grants-in-Aid for Scientific Research [15H05670, 15H05911] Funding Source: KAKEN
- Lundbeck Foundation [R155-2014-1724] Funding Source: researchfish
- Medical Research Council [MC_UU_12015/2, MC_U106179472] Funding Source: researchfish
- MRC [MC_U106179472, MC_UU_12015/2] Funding Source: UKRI
Recent work has demonstrated that some functional categories of the genome contribute disproportionately to the heritability of complex diseases. Here we analyze a broad set of functional elements, including cell type-specific elements, to estimate their polygenic contributions to heritability in genome-wide association studies (GWAS) of 17 complex diseases and traits with an average sample size of 73,599. To enable this analysis, we introduce a new method, stratified LD score regression, for partitioning heritability from GWAS summary statistics while accounting for linked markers. This new method is computationally tractable at very large sample sizes and leverages genome-wide information. Our findings include a large enrichment of heritability in conserved regions across many traits, a very large immunological disease-specific enrichment of heritability in FANTOM5 enhancers and many cell type-specific enrichments, including significant enrichment of central nervous system cell types in the heritability of body mass index, age at menarche, educational attainment and smoking behavior.
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