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

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

Research output: Contribution to journalArticlepeer-review

589 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1246-1250
Number of pages5
Issue number5945
StatePublished - 2009

ASJC Scopus subject areas

  • General


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