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H.J. Westra (Harm-Jan), D. Arends (Danny), T. Esko (Tõnu), M.J. Peters (Marjolein), C. Schurmann (Claudia), K. Schramm (Katharina), J. Kettunen (Johannes), H. Yaghootkar (Hanieh), B.P. Fairfax (Benjamin), A.K. Andiappan (Anand Kumar), et al. Y. Li (Yang), J. Fu (Jingyuan), J. Karjalainen (Juha), I. Platteel (Inge), M. Visschedijk (Marijn), R.K. Weersma (Rinse K.), S. Kasela (Silva), L. Milani (Lili), L. Tserel (Liina), P. Peterson (Pärt), E. Reinmaa (Eva), A. Hofman (Albert), A.G. Uitterlinden (André), F. Rivadeneira Ramirez (Fernando), G. Homuth (Georg), A. Petersmann (Astrid), R. Lorbeer (Roberto), H. Prokisch (Holger), T. Meitinger (Thomas), C. Herder (Christian), M. Roden (Michael), H. Grallert (Harald), S. Ripatti (Samuli), M. Perola (Markus), A.R. Wood (Andrew), D. Melzer (David), L. Ferrucci (Luigi), A. Singleton (Andrew), D.G. Hernandez (Dena), J.C. Knight (Julian), R. Melchiotti (Rossella), B. Lee (Bernett), M. Poidinger (Michael), F. Zolezzi (Francesca), A. Larbi (Anis), D.Y. Wang (De Yun), L.H. van den Berg (Leonard), J.H. Veldink (Jan), O. Rotzschke (Olaf), S. Makino (Seiko), V. Salomaa (Veikko), K. Strauch (Konstantin), U. Völker (Uwe), J.B.J. van Meurs (Joyce), A. Metspalu (Andres), C. Wijmenga (Cisca), R.C. Jansen (Ritsert) and L. Franke (Lude)

2015

Cell Specific eQTL Analysis without Sorting Cells

Publication

Publication

PL o S Genetics (Online) , Volume 11 - Issue 5

The functional consequences of trait associated SNPs are often investigated using expression quantitative trait locus (eQTL) mapping. While trait-associated variants may operate in a cell-type specific manner, eQTL datasets for such cell-types may not always be available. We performed a genome-environment interaction (GxE) meta-analysis on data from 5,683 samples to infer the cell type specificity of whole blood cis-eQTLs. We demonstrate that this method is able to predict neutrophil and lymphocyte specific cis-eQTLs and replicate these predictions in independent cell-type specific datasets. Finally, we show that SNPs associated with Crohn’s disease preferentially affect gene expression within neutrophils, including the archetypal NOD2 locus.

Additional Metadata
Persistent URL doi.org/10.1371/journal.pgen.1005223, hdl.handle.net/1765/88532
Journal PL o S Genetics (Online)
Grant This work was funded by the European Commission 7th Framework Programme; grant id fp7/261433 - Biobank Standardisation and Harmonisation for Research Excellence in the European Union (BIOSHARE-EU), This work was funded by the European Commission 7th Framework Programme; grant id fp7/201413 - European Network for Genetic and Genomic Epidemiology (ENGAGE)
Organisation Department of Internal Medicine
Citation
Westra, H.-J., Arends, D., Esko, T., Peters, M., Schurmann, C., Schramm, K., … Franke, L. (2015). Cell Specific eQTL Analysis without Sorting Cells. PL o S Genetics (Online), 11(5). doi:10.1371/journal.pgen.1005223
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