ArticleHuman molecular genetics2009
Expression quantitative trait loci detected in cell lines are often present in primary tissues.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed.
- Untargeted Metabolome- and Transcriptome-Wide Association Study Suggests Causal Genes Modulating Metabolite Concentrations in Urine.Journal of proteome research · 2021Article
- Gene expression changes in lymphoblastoid cell lines and primary B cells by dexamethasone.Pharmacogenetics and genomics · 2019Article
- Implications for the migraine SNP rs1835740 in a Swedish cluster headache population.The journal of headache and pain · 2018Article
- Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants.Human genetics · 2017Article
- eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene.Journal of applied genetics · 2016Article
- Lymphoblastoid Cell Lines as a Tool to Study Inter-Individual Differences in the Response to Glucose.PloS one · 2016Article
- Functional analysis and molecular characterization of spontaneously outgrown human lymphoblastoid cell lines.Molecular biology reports · 2014Article
- Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines.BMC genomics · 2014Article
- Genetic variation is the major determinant of individual differences in leukocyte endothelial adhesion.PloS one · 2014Article
- Epigenetic modifications are associated with inter-species gene expression variation in primates.Genome biology · 2014Article
- Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits.American journal of human genetics · 2013Article
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- Impact of natural genetic variation on gene expression dynamics.PLoS genetics · 2013Article
- Global properties and functional complexity of human gene regulatory variation.PLoS genetics · 2013Review
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- Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.Clinical cancer research : an official journal of the American Association for Cancer Research · 2012Article
- Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity.Current opinion in immunology · 2012Review
- In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing.BMC genomics · 2012Article
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Authors and funding
4 authors.
Funding
Abstract
Expression quantitative trait loci (eQTL) mapping is a powerful tool for identifying genetic regulatory variation. However, at present, most eQTLs in humans were identified using gene expression data from cell lines, and it remains unknown whether these eQTLs also have a regulatory function in other expression contexts, such as human primary tissues. Here we investigate this question using a targeted strategy. Specifically, we selected a subset of large-effect eQTLs identified in the HapMap lymphoblastoid cell lines, and examined the association of these eQTLs with gene expression levels across individuals in five human primary tissues (heart, kidney, liver, lung and testes). We show that genotypes at the eQTLs we selected are often predictive of variation in gene expression levels in one or more of the five primary tissues. The genotype effects in the primary tissues are consistently in the same direction as the effects inferred in the cell lines. Additionally, a number of the eQTLs we tested are found in more than one of the tissues. Our results indicate that functional studies in cell lines may uncover a substantial amount of genetic variation that affects gene expression levels in human primary tissues.
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