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Scientific article
English

Common regulatory variation impacts gene expression in a cell type-dependent manner

Contributors

Dimas, Antigone S.; Deutsch, Samuel; Stranger, Barbara E.; Montgomery, Stephen; Borel, Christelle; Attar Cohen, Homa; Ingle, Catherine; Beazley, Claude; Gutierrez Arcelus, Maria; Sekowska, Magdalena; Gagnebin, Maryline; Nisbett, James; Deloukas, Panos; Dermitzakis, Emmanouil; Antonarakis, Stylianos

Published in

Science, vol. 325, no. 5945, p. 1246-1250

Publication date

2009

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.

Keywords

  • Allelic Imbalance
  • B-Lymphocytes
  • Cell Line
  • Enhancer Elements, Genetic
  • Fibroblasts
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Gene Frequency
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • RNA, Messenger/genetics/metabolism
  • Regulatory Elements, Transcriptional
  • Statistics, Nonparametric
  • T-Lymphocytes

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

DIMAS, Antigone S. et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. In: Science, 2009, vol. 325, n° 5945, p. 1246–1250. doi: 10.1126/science.1174148

Main files (1)

Article (Published version)

Secondary files (1)

Appendix

Identifiers

Additional URL for this publication

http://www.sciencemag.org/cgi/content/full/325/5945/1246

Journal ISSN

0036-8075
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Technical informations

Creation

23/03/2010 11:58:00

First validation

23/03/2010 11:58:00

Update

14/03/2023 15:25:35

Status update

14/03/2023 15:25:35

Last indexation

29/10/2024 14:17:03
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