Encyclopedia of Animal Cognition and Behavior

Living Edition
| Editors: Jennifer Vonk, Todd Shackelford

Quantitative Trait Loci (QTL)

  • Luke BrandenbergerEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-47829-6_209-1


Quantitative Trait Loci (QTL) are genetic segments containing one or more genes that correlate with phenotypic variation in a quantitative trait.


Advances in DNA sequencing over the last 25 years have reduced the cost to generate a high-quality draft of the human genome from hundreds of millions to less than $1,500 (Wetterstrand 2018). The ease of access to sequence data has led to remarkable growth and demand for sequence analysis – how changes in genes and gene expression contribute to morphology and disease. For scientists, the process of connecting a phenotype to a gene can be complex. Many human traits and diseases are not solely determined by alleles at a single genetic locus that produce discrete “all-or-none” phenotypic effects, as was the case for Gregor Mendel’s pea plant seeds being smooth or wrinkled, yellow or green. Instead, many complex traits, diseases, and disease susceptibilities are influenced by interactions between alleles at multiple...

This is a preview of subscription content, log in to check access.


  1. Consortium, T. C. (2003). Guidelines: The nature and identification of quantitative trait loci: A community’s view. Nature Reviews Genetics, 4(11), 911–916.  https://doi.org/10.1038/nrg1206.CrossRefGoogle Scholar
  2. Economopoulou, P., Dimitriadis, G., & Psyrri, A. (2015). Beyond BRCA: New hereditary breast cancer susceptibility genes. Cancer Treatment Reviews, 41(1), 1–8.  https://doi.org/10.1016/j.ctrv.2014.10.008.CrossRefPubMedGoogle Scholar
  3. He, M., Qi, L., Xu, M., Zhang, B., Chen, P., Lee, J., & Liang, J. (2015). Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. Human Molecular Genetics.  https://doi.org/10.1093/hmg/ddu583.
  4. Jorde, L. B., Carey, J. C., & Bamshad, M. J. (2016). Medical genetics. Philadelphia: Elsevier.Google Scholar
  5. Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Philips, K. A., Mooiji, T., Roos-Blom, M. J., & Olsson, H. (2017). Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA.  https://doi.org/10.1001/jama.2017.7112.
  6. Miles, C., & Wayne, M. (2008). Quantitative Trait Locus (QTL) Analysis. Nature Education. Retrieved from https://www.nature.com/scitable/topicpage/quantitative-trait-locus-qtl-analysis-53904
  7. Moyer, V. A. (2014). Risk Assessment, genetic counseling and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force Recommendation Statement. Annals of Internal Medicine, 160. Retrieved from https://www.uspreventiveservicestaskforce.org/Page/Document/UpdateSummaryFinal/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing
  8. Remington, L., & Purugganan, D. (2003). Candidate genes, quantitative trait loci, and functional trait evolution in plants. International Journal of Plant Sciences. Retrieved from http://puruggananlab.bio.nyu.edu/pdf/remington2003.pdf
  9. Stolk, R., Rosmalen, J., Postma, D., Boer, R., Navis, G., Slaets, J., …, & Wolffenbuttel, B. (2008). Universal risk factors for multifactorial diseases. European Journal of Epidemiology, 67–74.  https://doi.org/10.1007/s10654-007-9204-4.
  10. Wetterstrand, K. A. (2018, April 25). The Cost of Sequencing a Human Genome. Retrieved from www.genome.gov/sequencingcostsdata

Copyright information

© Springer Nature Switzerland AG 2018

Authors and Affiliations

  1. 1.University of Utah School of MedicineSalt Lake CityUSA
  2. 2.Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)BethesdaUSA

Section editors and affiliations

  • Annika Paukner
    • 1
  1. 1.Laboratory of Comparative EthologyEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentPoolesvilleUSA