Cell Specific eQTL Analysis without Sorting Cells

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.

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

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