Nature Communications (Feb 2022)

Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82

  • Stephanie O. Erjavec,
  • Sahar Gelfman,
  • Alexa R. Abdelaziz,
  • Eunice Y. Lee,
  • Isha Monga,
  • Anna Alkelai,
  • Iuliana Ionita-Laza,
  • Lynn Petukhova,
  • Angela M. Christiano

DOI
https://doi.org/10.1038/s41467-022-28343-3
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 13

Abstract

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Common variants have been discovered to be associated with Alopecia Areata; however, rare variants have been less well studied. Here, the authors use whole-exome sequencing to identify associated rare variants in the hair keratin gene KRT82. Further, they find that individuals with Alopecia Areata have reduced expression of KRT82 in the skin and hair follicle.