PLoS Genetics (May 2015)

Cell Specific eQTL Analysis without Sorting Cells.

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

DOI
https://doi.org/10.1371/journal.pgen.1005223
Journal volume & issue
Vol. 11, no. 5
p. e1005223

Abstract

Read online

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.