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Westra, H.J.* ; Arends, D.* ; Esko, T.* ; Peters, M.J.* ; Schurmann, C.* ; Schramm, K. ; Kettunen, J.* ; Yaghootkar, H.* ; Fairfax, B.P.* ; Andiappan, A.K.* ; Li, Y.* ; Fu, J.* ; Karjalainen, J.* ; Platteel, M.* ; Visschedijk, M.* ; Weersma, R.K.* ; Kasela, S.* ; Milani, L.* ; Tserel, L.* ; Peterson, P.* ; Reinmaa, E.* ; Hofman, A.* ; Uitterlinden, A.G.* ; Rivadeneira, F.* ; Homuth, G.* ; Petersmann, A.* ; Lorbeer, R.* ; Prokisch, H. ; Meitinger, T. ; Herder, C.* ; Roden, M.* ; Grallert, H. ; Ripatti, S.* ; Perola, M.* ; Wood, A.R.* ; Melzer, D.* ; Ferrucci, L.* ; Singleton, A.B.* ; Hernandez, D.G.* ; Knight, J.C.* ; Melchiotti, R.* ; Lee, B.* ; Poidinger, M.* ; Zolezzi, F.* ; Larbi, A.* ; Wang, Y.* ; van den Berg, L.H.* ; Veldink, J.H.* ; Rotzschke, O.* ; Makino, S.* ; Salomaa, V.* ; Strauch, K. ; Völker, U.* ; van Meurs, J.B.* ; Metspalu, A.* ; Wijmenga, C.* ; Jansen, R.C.* ; Franke, L.*

Cell specific eQTL analysis without sorting cells.

PLoS Genet. 11:e1005223 (2015)
Publ. Version/Full Text DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Active Crohns-disease; Gene-expression; Wide Association; Dna Methylation; Variants; Heterogeneity; Blood
ISSN (print) / ISBN 1553-7390
e-ISSN 1553-7404
Journal PLoS Genetics
Quellenangaben Volume: 11, Issue: 5, Pages: , Article Number: e1005223 Supplement: ,
Publisher Public Library of Science (PLoS)
Publishing Place San Francisco
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology II (EPI2)
Institute of Genetic Epidemiology (IGE)