Association of human beta‐defensin 1 gene polymorphisms with nonsegmental vitiligo

Summary Background Vitiligo is a pigmentation disorder of autoimmune aetiology. Polymorphisms in beta‐defensin genes have been linked to a predisposition to some autoimmune disorders. Aim To evaluate the role of polymorphisms in DEFB 1 , the gene encoding for human beta‐defensin ( HBD )‐1 and its 5′ untranslated region in nonsegmental vitiligo. Methods In total, 354 participants [171 patients with non‐segmental vitiligo and 183 age and sex‐matched healthy controls ( HC s)], were genotyped by the PCR ‐restriction fragment length polymorphism ( RFLP ) method. For 80 of these individuals (40 patients and −40 HC s) serum HBD ‐1 was also measured by ELISA . Results The ‐44 G allele, CG genotype and GGG haplotype increased the risk for vitiligo ( P <  0.02 in all cases), whereas the ‐20 AA genotype seems to be protective ( P =  0.04). Serum HBD ‐1 levels were lower in patients with vitiligo than in HC s ( P <  0.01), as well as in patients with active vitiligo compared with those with stable vitiligo and with HC s ( P <  0.05 in both cases), Conclusion Our results suggest that HBD ‐1 and its gene polymorphisms may modulate vitiligo susceptibility and/or disease activity. This is the first report, to our knowledge, of the association of serum HBD ‐1 levels and DEFB 1 gene polymorphisms with vitiligo.