31.6: Further Reading

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The following is a very good introductory literature review on eQTLs, including their history and current applications:

The role of regulatory variation in complex traits and disease

Frank W. Albert and Leonid Kruglyak Nature Reviews Genetics 16 2015

There are also some research papers that are trailblazers in what is current in eQTL studies. One such paper is informative on the occurrence of DNA methylation affecting gene expression in the human brain. Another is a study on changes in expression during development in the nematode C. elegans, using age as a covariate during eQTL mapping:

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, et al. PLOS Genet 6 2010
The effects of genetic variation on gene expression dynamics during development Francesconi, M. and Lehner, B.
Nature 505 2013

In addition, eQTL variants have recently been found to be implicated in diseases such as Crohn’s disease and multiple sclerosis [4].

As mentioned in Section 4.2, there have also been a recent surge in studies applying eQTL studies to delineating differences among human subpopulations and characterizing the contributions of the environment toward trait variation:

Common genetic variants account for differences in gene expression among ethnic groups Spielman RS, Bastone LA, Burdick JT, Morley M, Ewens WJ, Cheung VG.
Nature Genetics 2007
Gene-expression Variation Within and Among Human populations Storey JD, Madeoy J, Strout JL, Wurfel M, Ronald J, Akey JM
The American Journal of Human Genetics 2007
Population genomics of human gene expression [12] Stranger BE,Nica AC, Forrest MS, et. al.
The American Journal of Human Genetics 2007
Evaluation of genetic Variation Contributing to Differences in Gene expression between populations
Zhang W, Duan S, Kistner EO, Bleibel WK, Huang RS, Clark TA, Chen TX, Schweitzer AC, Blume JE, Cox NJ, Dolan ME The American Journal of Human genetics 2008
A Genome-Wide Gene Expression Signature of Environmental Geography in Leukocytes of Moroccan Amazighs
Idaghdour Y, Storey JD, Jadallah SJ, Gibson G
PLoS 2008
On the design and analysis of gene expression studies in human populations Joshua M Akey, Shameek Biswas, Jeffrey T Leek, John D Storey
Nature Genetics 2007