Cited by 849Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

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Mapping complex disease traits with global gene expression

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Cookson, William, Liang, Liming, Abecasis, Gonçalo, Moffatt, Miriam, Lathrop, Mark·2009·Nature Reviews Genetics

DOI 10.1038/nrg2537PMC PMC4550035

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Abstract

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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Thein, S. L. et al. Intergenic variants of HBS1L–MYB are responsible for a major QTL on chromosome 6q23 influencing HbF levels in adults. Proc. Natl Acad. Sci. USA (in the press).

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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
ORCID: Cookson, William
Liang, Liming
Abecasis, Gonçalo
Moffatt, Miriam
Lathrop, Mark
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2009-03
Volume: 10
Issue: 3
Pages: 184-194
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2537
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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Mapping complex disease traits with global gene expression

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