Association of Auto Immune Regulator Gene Variant with The Susceptibility and Severity of Vitiligo


  • Amal H. Ahmed Professor, Dermatolog, Venereology and Andrology Department, Faculty of Medicine, Suez Canal University, Egypt.
  • Nader A. Ismail Lecturer, Dermatology, Venereology and Andrology Department, Faculty of Medicine, Suez Canal University, Egypt.
  • Eman A. Toraih Assistant Professor, Medical Genetics Department, Faculty of Medicine, Suez Canal University, Egypt.
  • Shereen M. Fathy M.B.B. Ch, Faculty of Medicine, Cairo University, Egypt.


Auto immune regulator gene variant, Susceptibility, Severity, Vitiligo


Vitiligo is an acquired pigmentary anomaly of the skin, manifested by circumscribed depigmented macules and patches due to the disappearance of pigment cells from the epidermis. The prevalence of vitiligo is increasing and involves up to 1–4% of the world population of all races. The objectives of this study were to compare allele frequencies between vitiligo patients and normal controls, to determine the risk allele for vitiligo in an Egyptian population and to explore the association between the AIRE SNP and the occurrence and severity of vitiligo. Methods: This was non-interventional comparative case-control study, a total of 186 individuals were enrolled in this study that were recruited from the Dermatology outpatient clinic, Suez Canal University Hospital, Ismailia. Genetic
and biochemical analyses were performed at the Medical Genetics Unit and Center of Molecular and Cellular Medicine of the Faculty of Medicine, SCU, and the rs2075876 SNP of AIRE gene was examined in all study participants. Results: Carriers for GG variants were less likely to develop vitiligo than their counterparts under homozygote model [crude odds ratio (OR) (95% CI): 13.8 (3.15-60.6], dominant model [OR (95% CI): 13.8 (3.15-60.5), and allelic model [OR (95% CI): 6.7(3.14-1.60.6). Conclusion: The AIRE gene has an important role in the pathogenesis of Vitiligo. Taking advantage of the great advances that genetics has brought into the studies of vitiligo have
paved the road for a new era of clinical translation of scientific research.