Association of human beta-defensin 1 gene polymorphisms with nonsegmental vitiligo.

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 DEFB1, 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 (HCs)], were genotyped by the PCR-restriction fragment length polymorphism (RFLP) method. For 80 of these individuals (40 patients and -40 HCs) 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 HCs (P < 0.01), as well as in patients with active vitiligo compared with those with stable vitiligo and with HCs (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 DEFB1 gene polymorphisms with vitiligo.