Which genes have been identified in the pathophysiology of alopecia areata?

Updated: Aug 06, 2020
  • Author: Chantal Bolduc, MD, FRCPC; Chief Editor: Dirk M Elston, MD  more...
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Several genes have been studied and a large amount of research has focused on human leukocyte antigen. Two studies demonstrated that human leukocyte antigen DQ3 (DQB1*03) was found in more than 80% of patients with alopecia areata, which suggests that it can be a marker for general susceptibility to alopecia areata. The studies also found that human leukocyte antigen DQ7 (DQB1*0301) and human leukocyte antigen DR4 (DRB1*0401) were present significantly more in patients with alopecia totalis and alopecia universalis. [9, 10, 11]

Another gene of interest is the interleukin 1 receptor antagonist gene, which may correlate with disease severity. Finally, the high association of Down syndrome with alopecia areata suggests involvement of a gene located on chromosome 21.

In summary, genetic factors likely play an important role in determining susceptibility and disease severity. Alopecia areata is likely to be the result of polygenic defects rather than a single gene defect. The role of environmental factors in initiating or triggering the condition is yet to be determined.

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