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

Kim-Hellmuth, Sarah; Aguet, Francois; Oliva, Meritxell; Munoz-Aguirre, Manuel; Wucher, Valentin; Kasela, Silva; Castel, Stephane E.; Hamel, Andrew R.; Vinuela, Ana; Roberts, Amy L.; Mangul, Serghei; Wen, Xiaoquan; Wang, Gao; Barbeira, Alvaro N.; Garrido-Martin, Diego; Nadel, Brian; Zou, Yuxin; Bonazzola, Rodrigo; Quan, Jie; Brown, Andrew; Martinez-Perez, Angel; Soria, Jose Manuel; Getz, Gad; Dermitzakis, Emmanouil T.; Small, Kerrin S.; Stephens, Matthew; Xi, Hualin S.; Im, Hae Kyung; Guig, Roderic; Segr V, Ayellet; Stranger, Barbara E.; Ardlie, Kristin G.; Lappalainen, Tuuli

doi:10.1126/science.aaz8528

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

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

MPS-Authors

/persons/resource/persons262557

Kim-Hellmuth, Sarah
RG Statistical Genetics, Max Planck Institute of Psychiatry, Max Planck Society;

External Resource

No external resources are shared

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

Kim-Hellmuth, S., Aguet, F., Oliva, M., Munoz-Aguirre, M., Wucher, V., Kasela, S., et al. (2020). Cell type-specific genetic regulation of gene expression across human tissues. SCIENCE, 369(6509): aaz8528, pp. 1318-1330. doi:10.1126/science.aaz8528.

Cite as: https://hdl.handle.net/21.11116/0000-0008-2764-C

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.