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Nat Rev Genet. 2015 Apr;16(4):197-212. doi: 10.1038/nrg3891. Epub 2015 Feb 24.

The role of regulatory variation in complex traits and disease.

Author information

1
1] Departments of Human Genetics and Biological Chemistry, University of California, Los Angeles, California 90095, USA. [2] Gonda Center 5309, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA.
2
1] Departments of Human Genetics and Biological Chemistry, University of California, Los Angeles, California 90095, USA. [2] Gonda Center 5309, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA. [3] Howard Hughes Medical Institute, University of California, Los Angeles, California 90095, USA.

Abstract

We are in a phase of unprecedented progress in identifying genetic loci that cause variation in traits ranging from growth and fitness in simple organisms to disease in humans. However, a mechanistic understanding of how these loci influence traits is lacking for the majority of loci. Studies of the genetics of gene expression have emerged as a key tool for linking DNA sequence variation to phenotypes. Here, we review recent insights into the molecular nature of regulatory variants and describe their influence on the transcriptome and the proteome. We discuss conceptual advances from studies in model organisms and present examples of complete chains of causality that link individual polymorphisms to changes in gene expression, which in turn result in physiological changes and, ultimately, disease risk.

PMID:
25707927
DOI:
10.1038/nrg3891
[Indexed for MEDLINE]

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