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Title

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

Authors
Dimas, Antigone S.
Deutsch, Samuel
Stranger, Barbara E.
Ingle, Catherine
Beazley, Claude
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Published in Science. 2009, vol. 325, no. 5945, p. 1246-50
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 ImbalanceB-LymphocytesCell LineEnhancer Elements, GeneticFibroblastsGene Expression ProfilingGene Expression RegulationGene FrequencyGenotypeHumansPolymorphism, Single NucleotideQuantitative Trait LociRNA, Messenger/genetics/metabolismRegulatory Elements, TranscriptionalStatistics, NonparametricT-Lymphocytes
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PMID: 19644074
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Appendix (541 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Other version: http://www.sciencemag.org/cgi/content/full/325/5945/1246
Structures
Research groups Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
Population Genomics and Genetics of Complex Traits (892)
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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. 1246-50. https://archive-ouverte.unige.ch/unige:5537

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Deposited on : 2010-03-23

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