Identification of context-dependent expression quantitative trait loci in whole blood

Daria Pital-Zhernakova, Patrick Deelen, Martijn Vermaat, Maarten van Iterson, Michiel van Galen, Wibowo Arindrarto, Peter van 't Hof, Hailiang Mei, Freerk van Dijk, Harm-Jan Westra, Marc Jan Bonder, Jeroen van Rooij, Marijn Verkerk, P. Mila Jhamai, Matthijs Moed, Szymon M. Kielbasa, Jan Bot, Irene Nooren, Rene Pool, Jenny van DongenJouke J. Hottenga, Coen D. A. Stehouwer, Carla J. H. van der Kallen, Casper G. Schalkwijk, Alexandra Zhernakova, Yang Li, Ettje F. Tigchelaar, Niek de Klein, Marian Beekman, Joris Deelen, Diana van Heemst, Leonard H. van den Berg, Albert Hofman, Andre G. Uitterlinden, Marleen M. J. van Greevenbroek, Jan H. Veldink, Dorret I. Boomsma, Cornelia M. van Duijn, Cisca Wijmenga, P. Eline Slagboom, Morris A. Swertz, Aaron Isaacs, Joyce B. J. van Meurs, Rick Jansen, Bastiaan T. Heijmans, Peter A. C. 't Hoen, Lude Franke*

*Corresponding author for this work

Research output: Contribution to journalLetterAcademicpeer-review

138 Citations (Scopus)

Abstract

Genetic risk factors often localize to noncoding regions of the genome with unknown effects on disease etiology1,2. Expression quantitative trait loci (eQTLs) help to explain the regulatory mechanisms underlying these genetic associations(3-6). Knowledge of the context that determines the nature and strength of eQTLs may help identify cell types relevant to pathophysiology and the regulatory networks underlying disease(7-17). Here we generated peripheral blood RNA-seq data from 2,116 unrelated individuals and systematically identified context-dependent eQTLs using a hypothesis-free strategy that does not require previous knowledge of the identity of the modifiers. Of the 23,060 significant cis-regulated genes (false discovery rate (FDR)

Original languageEnglish
Pages (from-to)139-145
Number of pages7
JournalNature Genetics
Volume49
Issue number1
Early online date5-Dec-2016
DOIs
Publication statusPublished - Jan-2017

Keywords

  • GENE-EXPRESSION
  • DISEASE ASSOCIATIONS
  • HUMAN NEUTROPHILS
  • CELL
  • GENOME
  • VARIANTS
  • OBESITY
  • ENRICHMENT
  • INFECTION
  • ALLELES

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