Cell Specific eQTL Analysis without Sorting Cells

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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 , D Y , van den Berg , L H , Veldink , J H , Rotzschke , O , Makino , S , Salomaa , V , Strauch , K , Voelker , U , van Meurs , J B J , Metspalu , A , Wijmenga , C , Jansen , R C & Franke , L 2015 , ' Cell Specific eQTL Analysis without Sorting Cells ' , PLoS Genetics , vol. 11 , no. 5 , 1005223 . https://doi.org/10.1371/journal.pgen.1005223

Title: Cell Specific eQTL Analysis without Sorting Cells
Author: Westra, Harm-Jan; Arends, Danny; Esko, Tonu; Peters, Marjolein J.; Schurmann, Claudia; Schramm, Katharina; Kettunen, Johannes; Yaghootkar, Hanieh; Fairfax, Benjamin P.; Andiappan, Anand Kumar; Li, Yang; Fu, Jingyuan; Karjalainen, Juha; Platteel, Mathieu; Visschedijk, Marijn; Weersma, Rinse K.; Kasela, Silva; Milani, Lili; Tserel, Liina; Peterson, Part; Reinmaa, Eva; Hofman, Albert; Uitterlinden, Andre G.; Rivadeneira, Fernando; Homuth, Georg; Petersmann, Astrid; Lorbeer, Roberto; Prokisch, Holger; Meitinger, Thomas; Herder, Christian; Roden, Michael; Grallert, Harald; Ripatti, Samuli; Perola, Markus; Wood, Andrew R.; Melzer, David; Ferrucci, Luigi; Singleton, Andrew B.; Hernandez, Dena G.; Knight, Julian C.; Melchiotti, Rossella; Lee, Bernett; Poidinger, Michael; Zolezzi, Francesca; Larbi, Anis; Wang, De Yun; van den Berg, Leonard H.; Veldink, Jan H.; Rotzschke, Olaf; Makino, Seiko; Salomaa, Veikko; Strauch, Konstantin; Voelker, Uwe; van Meurs, Joyce B. J.; Metspalu, Andres; Wijmenga, Cisca; Jansen, Ritsert C.; Franke, Lude
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Clinicum
University of Helsinki, Quantitative Genetics
Date: 2015-05
Language: eng
Number of pages: 17
Belongs to series: PLoS Genetics
ISSN: 1553-7390
URI: http://hdl.handle.net/10138/162486
Abstract: 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.
Subject: ACTIVE CROHNS-DISEASE
GENE-EXPRESSION
WIDE ASSOCIATION
DNA METHYLATION
VARIANTS
HETEROGENEITY
BLOOD
3142 Public health care science, environmental and occupational health
3111 Biomedicine
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