title: Common regulatory variation impacts gene expression in a cell type-dependent manner.
abstract: Studies correlating genetic variation to gene expression facilitate the interpretation of common human phenotypes and disease. As functional variants may be operating in a tissue-dependent manner, we performed gene expression profiling and association with genetic variants (single-nucleotide polymorphisms) on three cell types of 75 individuals. We detected cell type-specific genetic effects, with 69 to 80% of regulatory variants operating in a cell type-specific manner, and identified multiple expressive quantitative trait loci (eQTLs) per gene, unique or shared among cell types and positively correlated with the number of transcripts per gene. Cell type-specific eQTLs were found at larger distances from genes and at lower effect size, similar to known enhancers. These data suggest that the complete regulatory variant repertoire can only be uncovered in the context of cell-type specificity.
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1HH, Cambridge, UK.
authors: Antigone S
authors: AS
authors: Dimas
authors: Samuel
authors: S
authors: Deutsch
authors: Barbara E
authors: BE
authors: Stranger
authors: Stephen B
authors: SB
authors: Montgomery
authors: Christelle
authors: C
authors: Borel
authors: Homa
authors: H
authors: Attar-Cohen
authors: Catherine
authors: C
authors: Ingle
authors: Claude
authors: C
authors: Beazley
authors: Maria
authors: M
authors: Gutierrez Arcelus
authors: Magdalena
authors: M
authors: Sekowska
authors: Marilyne
authors: M
authors: Gagnebin
authors: James
authors: J
authors: Nisbett
authors: Panos
authors: P
authors: Deloukas
authors: Emmanouil T
authors: ET
authors: Dermitzakis
authors: Stylianos E
authors: SE
authors: Antonarakis
mesh_terms: D022981:Allelic Imbalance; D001402:B-Lymphocytes; D002460:Cell Line; D004742:Enhancer Elements, Genetic; D005347:Fibroblasts; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D050436:Regulatory Elements, Transcriptional; D018709:Statistics, Nonparametric; D013601:T-Lymphocytes
chemical_list: D012333:RNA, Messenger