Estimation of Homocysteine Level and Methylenetetrahydrofolate Reductase (MTHFR) Gene and Cystathionine B Synthase (CBS) Gene Polymorphisms in Vitiligo Patients.

Background: Vitiligo is an acquired, multifactorial disorder of the skin and mucous membranes. An elevated homocysteine level has been described in vitiligo. Methylenetetrahydrofolate reductase (MTHFR) and cystathionine B synthase (CBS) are major determinants of the homocysteine metabolism.

Objectives: Determine serum homocysteine levels in vitiligo patients as well as the association between MTHFR (C677T, A1298C) and CBSgene polymorphisms and susceptibility to vitiligo in a sample of those populations.

Methods: Homocysteine levels were estimated by radioimmunoassay while MTHFR (C677T, A1298C) and CBSgene polymorphisms were detected by the polymerase chain reaction-restriction fragment length polymorphism technique in 100 vitiligo patients and 80 healthy controls.

Results: The homocysteine level was significantly higher in vitiligo patients than controls (p = 0.000). Significant differences in the genotype and allele distributions of single nucleotide polymorphisms of the MTHFR (C677T, A1298C) with the mutant genotypes are more common in the controls than patients (p = 0.001, 0.029, respectively). CBS gene mutant genotypes and alleles are more common in vitiligo patients than controls (p = 0.002).

Conclusion: CBSand MTHFRgene polymorphisms may play a major role in the genetic susceptibility to vitiligo.