The Role of Functional Polymorphisms of Apoptotic BAX (-248G>A) and Anti-Apoptotic BCL2 (-938C>A) Genes in the Development of Vitiligo: A Cross-sectional Study.

Background: Vitiligo is an autoimmune skin disorder in which apoptosis plays an exceptionally vital role in its occurrence. Research has shown a strong association between the presence of polymorphisms and the occurrence of diseases. This study aimed to determine the association of BAX-248G>A and BCL2-938C>A polymorphisms with vitiligo.

Methods: This cross-sectional study utilized the tetra-primer amplification refractory mutation system polymerase chain reaction (ARMS PCR) in a cohort of vitiligo patients referred to the esteemed dermatology department of Shahid Faqihi Hospital in Shiraz between 2022 and 2023. The Chi square test and t test were used to analyze data, and logistic regression was employed to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for vitiligo risk associated with BAX-248G>A, BCL2-938 C>A polymorphisms. P values<0.05 indicated statistical significance.

Results: From 112 healthy individuals and 107 vitiligo patients, our research uncovered a significant association between the C allele (BCL2-938C>A) and the chance of vitiligo, with the CC genotype increasing the risk of developing this disease (OR=2.59, 95% CI=1.66-4.05, P<0.001). We also found that in individuals with the GG genotype (BAX-248G>A), the risk of vitiligo is higher (OR=4.576, 95% CI=1.19-17.60, P=0.027). Parental kinship was strongly correlated with vitiligo (OR=1.83, 95% CI=1.00-3.33, P=0.048). Moreover, no significant association was observed between smoking and vitiligo.

Conclusion: The results showed that BCL2-938C>A and BAX-248G>A polymorphisms may play a role in the pathogenesis of vitiligo and can be used as prognosis markers. However, further studies in larger groups and different populations are needed.