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Quantitative genetic variation: a post-modern view
1Department of Cardiovascular Medicine, University of Oxford, The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK. mfarrall@well.ox.ac.uk
Human Molecular Genetics
|February 14, 2004
Summary
Mapping quantitative trait loci (QTL) is advancing from individual genes to a genomic perspective. New models and analysis of expression QTL (eQTL) reveal insights into complex disease genetics.
Area of Science:
- Genetics
- Genomics
- Quantitative genetics
Background:
- Mapping quantitative trait loci (QTL) is common in model organisms but challenging in humans.
- Understanding the molecular basis of QTL is crucial for complex disease research.
- Traditional models of quantitative genetics are being updated by new data.
Purpose of the Study:
- To shift the focus from individual QTL to a genomic perspective on quantitative variation.
- To explore the role of coding variants and expression QTL (eQTL) in quantitative variation.
- To provide a new mathematical framework for linkage mapping.
Main Methods:
- QTL mapping experiments in plants and animals.
- Molecular analysis of QTL, including coding variants and expression QTL (eQTL).
- Genomic experiments combining expression profiling with genetic mapping.
Main Results:
- An exponential model fits QTL effect size distributions, suggesting a few genes explain significant variation.
- Coding variants explain some quantitative variation, while expression QTL (eQTL) play a substantial role.
- Heritable variation in the transcriptome and regulatory networks were revealed.
Conclusions:
- Advances in QTL mapping and analysis of eQTL offer a more comprehensive understanding of quantitative variation.
- New models and findings support a shift towards a genomic perspective in quantitative genetics.
- These insights are expected to improve our understanding of the genetic basis of complex inherited diseases.