The Role of Functional Polymorphisms of Apoptotic (-248G>A) and Anti-Apoptotic (-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 -248G>A and -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 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 -248G>A, -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 (-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 (-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 -938C>A and -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.