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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

Articles InPress

Document Type : Original Article(s)

Authors

1 Molecular Dermatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

2 Department of Dermatology, University Hospitals Coventry & Warwickshire, Coventry, UK

3 Department of Dermatology, Shiraz University of Medical Sciences, Shiraz, Iran

10.30476/ijms.2025.104043.3750

Abstract

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. 

Highlights

Afrooz Daneshparvar (Google Scholar)

Nasrin Hamidizadeh (Google Scholar)

Keywords

References
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Iranian Journal of Medical Sciences

Articles InPress, Corrected Proof
Available Online from 19 August 2025
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  • Received: 14 September 2024
  • Revised: 12 January 2025
  • Accepted: 09 February 2025
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