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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Dimas, Antigone S. Deloukas, Panos Antonarakis, Stylianos E. Deutsch, Samuel Nisbett, James Beazley, Claude Dermitzakis, Emmanouil T. Attar-cohen, Homa Borel, Christelle Ingle, Catherine Sekowska, Magdalena Montgomery, Stephen B. Gutierrez Arcelus, Maria Gagnebin, Marilyne Stranger, Barbara E. |
| Description | Author Affiliation: Dimas AS ( Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1HH, Cambridge, UK.) |
| 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. |
| ISSN | 00368075 |
| e-ISSN | 10959203 |
| Journal | Science |
| Issue Number | 5945 |
| Volume Number | 325 |
| Language | English |
| Publisher | American Association for the Advancement of Science (United States) |
| Publisher Date | 2009-09-04 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Gene Expression Regulation Polymorphism, Single Nucleotide Quantitative Trait Loci Regulatory Elements, Transcriptional Allelic Imbalance B-Lymphocytes Cell Line Enhancer Elements, Genetic Fibroblasts Gene Expression Profiling Gene Frequency Genotype RNA, Messenger Genetics Metabolism Statistics, Nonparametric T-Lymphocytes Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | History and Philosophy of Science |
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