Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pgen.1005223
Title: Cell Specific eQTL Analysis without Sorting Cells
Authors: 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.
Völker U.
van Meurs J.B.J.
Metspalu A.
Wijmenga C.
Jansen R.C.
Franke L.
Keywords: caspase recruitment domain protein 15
caspase recruitment domain protein 15
NOD2 protein, human
Article
cell selection
cell specificity
cohort analysis
controlled study
Crohn disease
downstream processing
gene expression profiling
genotype environment interaction
lymphocyte
neutrophil
NOD2 gene
quantitative trait locus mapping
single nucleotide polymorphism
cell line
cytology
gene expression regulation
genetics
genome-wide association study
human
meta analysis
metabolism
phenotype
principal component analysis
procedures
quantitative trait locus
reproducibility
single nucleotide polymorphism
Cell Line
Crohn Disease
Gene Expression Regulation
Genome-Wide Association Study
Humans
Lymphocytes
Neutrophils
Nod2 Signaling Adaptor Protein
Phenotype
Polymorphism, Single Nucleotide
Principal Component Analysis
Quantitative Trait Loci
Reproducibility of Results
Issue Date: 2015
Publisher: Public Library of Science
Citation: 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., Völker 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 11 (5) : e1005223. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1005223
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. © 2015, Public Library of Science. All rights reserved.
Source Title: PLoS Genetics
URI: https://scholarbank.nus.edu.sg/handle/10635/165392
ISSN: 15537390
DOI: 10.1371/journal.pgen.1005223
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