Mapping complex disease traits with global gene expression
Open accessAbstract
Variation in gene expression is an important mechanism underlying susceptibility to complex disease. The simultaneous genome-wide assay of gene expression and genetic variation allows the mapping of the genetic factors that underpin individual differences in quantitative levels of expression (expression QTLs; eQTLs). The availability of systematically generated eQTL information could provide immediate insight into a biological basis for disease associations identified through genome-wide association (GWA) studies, and can help to identify networks of genes involved in disease pathogenesis. Although there are limitations to current eQTL maps, understanding of disease will be enhanced with novel technologies and international efforts that extend to a wide range of new samples and tissues.
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eQTL analysis shows gene expression and splicing are heavily influenced by common variants, possibly for most transcripts.
“eQTL analysis shows that gene expression and splicing are heavily influenced by common variants, possibly for the majority of transcripts86–88.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [86]
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- Authors
- Cookson, W., Liang, L., Abecasis, G., Moffatt, M., & Lathrop, M.
- Affiliations
- Imperial College London (GB)
- University of Michigan (US)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Corresponding author
- Cookson, William
- Liang, Liming
- Abecasis, Gonçalo
- Moffatt, Miriam
- Lathrop, Mark
- Venue
- Nature Reviews Genetics
- Published
- 2009-03
- Volume
- 10
- Issue
- 3
- Pages
- 184-194
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC4550035
- OpenAlex
- W2142260323
- Cited by
- 849
- References
- 115
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 30 · 2023: 27 · 2022: 29 · 2021: 41 · 2020: 37 · 2019: 47 · 2018: 36 · 2017: 40 · 2016: 52 · 2015: 62 · 2014: 59 · 2013: 79 · 2012: 102
- FWCI
- 8.99
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust
- National Heart, Lung, and Blood Institute (U01HL084729)
- National Human Genome Research Institute (R01HG002651)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- expression quantitative trait loci, eQTL mapping, gene expression variation, complex disease susceptibility, disease risk loci, genome-wide association study, mRNA levels, gene regulatory networks, pathogenesis, tissue-specific gene expression
- MeSH terms
- Animals, Disease, Humans, Genetic Variation, Quantitative Trait Loci, Genome-Wide Association Study
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