Background: Vitiligo is a common depigmenting disorder resulting from the loss of functional melanocytes in the skin. It is hypothesized to be of autoimmune origin. Mannan-binding lectin (MBL) plays an important role in innate immunity. It helps in the clearance of apoptotic cells and in complement activation. Genetic variability due to structural and promoter polymorphisms in the MBL2 gene has been reported to be associated with increased risk for several autoimmune diseases including vitiligo.
Objectives: The aim of this study was to explore whether MBL2 structural and promoter polymorphisms are associated with generalized vitiligo in Gujarat where the prevalence of vitiligo is alarmingly high.
Materials and methods: We undertook a case-control study to investigate the association of MBL2 gene exon 1 polymorphisms - codon 52, codon 54 and codon 57 as well as promoter -221 polymorphism in 92 patients with generalized vitiligo and 94 unaffected age-matched controls by polymerase chain reaction-heteroduplex analysis.
Results: The genotype and allele frequencies of MBL2 structural and promoter polymorphisms did not differ significantly between the control and patient population (P-values: P < 0.019 for codon 52, P < 0.373 for codon 54, P < 0.855 for codon 57 and P < 0.889 for -221 promoter polymorphisms) after Bonferroni's correction for multiple testing, which suggests that there is no association of MBL2 structural and promoter polymorphisms with generalized vitiligo.
Conclusions: Our results suggest that the well-documented structural and promoter polymorphisms of the MBL2 gene may not be associated with generalized vitiligo in the Gujarat population.