Genetics of human gene expression.
A steadily growing number of studies have identified and characterized expression quantitative trait loci (eQTLs) in human cell-lines, primary cells, and tissues. This class of variation has been shown to play a role in complex traits, including disease. Here, we discuss how eQTLs have the potential to accelerate discovery of disease genes and functional mechanisms underlying complex traits. We discuss how context-specificity of eQTLs is being characterized at an unprecedented scale and breadth, and how this both informs on the intricacy of human genome function, and has important ramifications for elucidating function of genetic variants of interest, particularly for those contributing to disease.
Section of Genetic Medicine, Department of Medicine, University of Chicago, IL, USA; Institute for Genomics and Systems Biology, University of Chicago, Chicago, IL, USA. Electronic address: bstranger@medicine.bsd.uchicago.edu.
Barbara E
BE
Stranger
Towfique
T
Raj
D020869:Gene Expression Profiling; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci / Q000235:genetics*