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

Nat Genet
Authors
Keywords
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) 

Year of Publication
2018
Journal
Nat Genet
Volume
50
Issue
4
Pages
621-629
Date Published
2018 04
ISSN
1546-1718
DOI
10.1038/s41588-018-0081-4
PubMed ID
29632380
PubMed Central ID
PMC5896795
Links
Grant list
R01 MH094714 / MH / NIMH NIH HHS / United States
R21 MH103877 / MH / NIMH NIH HHS / United States
U01 MH103346 / MH / NIMH NIH HHS / United States
U01 MH103340 / MH / NIMH NIH HHS / United States
U01 MH103339 / MH / NIMH NIH HHS / United States
R01 AR063759 / AR / NIAMS NIH HHS / United States
R21 MH105881 / MH / NIMH NIH HHS / United States
R01 MH109978 / MH / NIMH NIH HHS / United States
P50 MH106934 / MH / NIMH NIH HHS / United States
U01 CA194393 / CA / NCI NIH HHS / United States
U01 MH103365 / MH / NIMH NIH HHS / United States
T32 HG002295 / HG / NHGRI NIH HHS / United States
T32 GM007753 / GM / NIGMS NIH HHS / United States
U01 MH103392 / MH / NIMH NIH HHS / United States
MC_UU_12015/2 / MRC_ / Medical Research Council / United Kingdom
R01 MH105472 / MH / NIMH NIH HHS / United States
U01 HG009379 / HG / NHGRI NIH HHS / United States
UH2 AR067677 / AR / NIAMS NIH HHS / United States
R21 MH102791 / MH / NIMH NIH HHS / United States
R01 MH107649 / MH / NIMH NIH HHS / United States
R01 MH105898 / MH / NIMH NIH HHS / United States