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Partitioning heritability by functional annotation using genome-wide association summary statistics

Finucane, Hilary K ; Bulik-Sullivan, Brendan ; Gusev, Alexander ; Trynka, Gosia ; Reshef, Yakir ; Loh, Po-Ru ; Anttila, Verneri ; Xu, Han ; Zang, Chongzhi ; Farh, Kyle ; Ripke, Stephan ; Day, Felix R ; Purcell, Shaun ; Stahl, Eli ; Lindstrom, Sara ; Perry, John R B ; Okada, Yukinori ; Raychaudhuri, Soumya ; Daly, Mark J ; Patterson, Nick ; Neale, Benjamin M ; Price, Alkes L

Nature genetics, 2015-11, Vol.47 (11), p.1228-1235 [Periódico revisado por pares]

United States: Nature Publishing Group

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Partitioning heritability by functional annotation using genome-wide association summary statistics
Autor: Finucane, Hilary K ; Bulik-Sullivan, Brendan ; Gusev, Alexander ; Trynka, Gosia ; Reshef, Yakir ; Loh, Po-Ru ; Anttila, Verneri ; Xu, Han ; Zang, Chongzhi ; Farh, Kyle ; Ripke, Stephan ; Day, Felix R ; Purcell, Shaun ; Stahl, Eli ; Lindstrom, Sara ; Perry, John R B ; Okada, Yukinori ; Raychaudhuri, Soumya ; Daly, Mark J ; Patterson, Nick ; Neale, Benjamin M ; Price, Alkes L
Assuntos: Algorithms ; Computer Simulation ; Disease - genetics ; Economic models ; Female ; Gene Frequency ; Genetic aspects ; Genetic Predisposition to Disease - genetics ; Genetic research ; Genome-wide association studies ; Genome-Wide Association Study - methods ; Heritability ; Histones - metabolism ; Humans ; Inheritance Patterns ; Lysine - metabolism ; Male ; Methods ; Methylation ; Models, Genetic ; Polymorphism, Single Nucleotide ; Population genetics ; Statistics ; Studies
É parte de: Nature genetics, 2015-11, Vol.47 (11), p.1228-1235
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Co-last authors.
Co-first authors.
A full list of consortium members appears in the Supplementary Note.
Descrição: 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.
Editor: United States: Nature Publishing Group
Idioma: Inglês

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Partitioning heritability by functional annotation using genome-wide association summary statistics

United States: Nature Publishing Group

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