Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

October 2019 in “ Immunological investigations ”

Eman A. Toraih, Hatem Mohamed Ameen, Mohammad Hussein, Ahmed A. Youssef Elabd, Abeer Mohamed, Abdelhady Ragab Abdel-Gawad, Manal S. Fawzy

alopecia areata AIRE gene rs2075876 variant genetic models GG genotype autoimmune regulator gene AA

TLDR The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

The study investigated the association between the AIRE gene variant rs2075876 and alopecia areata (AA) in 337 males (97 AA patients and 240 controls). The GG genotype of rs2075876 was significantly more frequent in AA patients (90.7%) compared to controls (32.5%), with various genetic models showing increased risk for AA (e.g., OR = 16.1 for GG vs. AA). However, AIRE gene expression levels did not differ significantly between patients and controls and were not related to the rs2075876 variant. The intronic variant rs2075876 was suggested to be a potent susceptibility variant for AA development in the studied population.