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Cell type-specific genetic regulation of gene expression across human tissues.

ABSTRACT: The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.

SUBMITTER: Kim-Hellmuth S 

PROVIDER: S-EPMC8051643 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Cell type-specific genetic regulation of gene expression across human tissues.

Kim-Hellmuth Sarah S   Aguet François F   Oliva Meritxell M   Muñoz-Aguirre Manuel M   Kasela Silva S   Wucher Valentin V   Castel Stephane E SE   Hamel Andrew R AR   Viñuela Ana A   Roberts Amy L AL   Mangul Serghei S   Wen Xiaoquan X   Wang Gao G   Barbeira Alvaro N AN   Garrido-Martín Diego D   Nadel Brian B BB   Zou Yuxin Y   Bonazzola Rodrigo R   Quan Jie J   Brown Andrew A   Martinez-Perez Angel A   Soria José Manuel JM   Getz Gad G   Dermitzakis Emmanouil T ET   Small Kerrin S KS   Stephens Matthew M   Xi Hualin S HS   Im Hae Kyung HK   Guigó Roderic R   Segrè Ayellet V AV   Stranger Barbara E BE   Ardlie Kristin G KG   Lappalainen Tuuli T  

Science (New York, N.Y.) 20200901 6509

The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-  ...[more]

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