The genetic architecture of alopecia areata

J Investig Dermatol Symp Proc. 2013 Dec;16(1):S16-22. doi: 10.1038/jidsymp.2013.5.

Abstract

A major impetus to initiating the Human Genome Project was the belief that information encoded in the human genome would "accelerate progress in understanding disease pathogenesis and in developing new approaches to diagnosis, treatment, and prevention in many areas of medicine". Alopecia areata (AA) is a notable example of how understanding the genetic basis of a disease can have an impact on the care of patients in a relatively short time. Our first genome-wide association study in AA identified an initial set of common variants that increase risk of AA, some of which are shared with other autoimmune diseases. Thus, there has already been rapid progress in the translation of this information into new therapeutic strategies for patients, as drugs are already on the market for some of these disorders that can now be tested in AA. Informed by the progress achieved with genetic studies for mechanistically aligned autoimmune diseases, we are poised to carry this work forward and interrogate the underlying disease mechanisms in AA. Importantly, future genetic studies aimed at identifying additional susceptibility genes will further establish the foundation for the application of precision medicine in the care of AA patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alopecia Areata / drug therapy
  • Alopecia Areata / genetics*
  • Autoimmune Diseases / genetics*
  • Biomarkers
  • Genetic Linkage*
  • Genome-Wide Association Study*
  • Humans
  • Translational Research, Biomedical

Substances

  • Biomarkers