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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

ABSTRACT: We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratified linkage disequilibrium (LD) score regression to test whether disease heritability is enriched in regions surrounding genes with the highest specific expression in a given tissue. We applied our approach to gene expression data from several sources together with GWAS summary statistics for 48 diseases and traits (average N?=?169,331) and found significant tissue-specific enrichments (false discovery rate (FDR)?

SUBMITTER: Finucane HK

PROVIDER: S-EPMC5896795 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

Finucane Hilary K HK Reshef Yakir A YA Anttila Verneri V Slowikowski Kamil K Gusev Alexander A Byrnes Andrea A Gazal Steven S Loh Po-Ru PR Lareau Caleb C Shoresh Noam N Genovese Giulio G Saunders Arpiar A Macosko Evan E Pollack Samuela S Perry John R B JRB Buenrostro Jason D JD Bernstein Bradley E BE Raychaudhuri Soumya S McCarroll Steven S Neale Benjamin M BM Price Alkes L AL

Nature genetics 20180409 4

We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratified linkage disequilibrium (LD) score regression to test whether disease heritability is enriched in regions surrounding genes with the highest specific expression in a given tissue. We applied our approach to gene expression data from several sources together with GWAS summary statistics for ...[more]

PMID: 29632380

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