Background:
Endometriosis is a chronic, gynecological disorder, and the disease's pathogenesis is still debatable. Genes related to apoptosis have been revealed to be deregulated in endometriosis.
Objective: This study investigates the relationship between polymorphic variants of
Bax -۲۴۸G>A and Bcl-۲ -۹۳۸C>A promoter regions with endometriosis risk in an Iranian population.
Materials and Methods: In this case-control study, the polymorphisms of
Bax -۲۴۸G>A and Bcl-۲ -۹۳۸C>A promoter regions were analyzed in ۱۲۷ Iranian cases and ۱۲۵ controls who were referred to Ali-ibn-Abi Taleb Educational hospital, Zahedan, Iran between May ۲۰۲۲ and February ۲۰۲۳. The genotypic analysis was performed for all the subjects using the polymerase chain reaction-restriction fragment length polymorphism method.
Results: The frequencies of mutant allele A carriers and the A allele of
Bax -۲۴۸G>A polymorphism showed about ۲-fold significant increase of endometriosis risk (p = ۰.۰۴; p = ۰.۰۱, respectively). The frequencies of the mutant genotype AA and A allele carriers of Bcl-۲ -۹۳۸C>A polymorphism were approximately ۴ and ۲.۵-fold higher in endometriosis compared to the control women, which were highly significant (p > ۰.۰۰۱). Moreover, the allele A frequency of Bcl-۲ -۹۳۸C>A was associated with a ۲-fold higher risk of endometriosis (p > ۰.۰۰۱). Furthermore, the combination effects of these ۲ single nucleotide polymorphisms showed that women with
Bax -۲۴۸G>A GG and Bcl-۲ -۹۳۸C>A AA variant alleles were associated with about ۵ times higher risk of endometriosis (p > ۰.۰۰۱). Notably, a significant difference was observed in mutant allele distribution between minimal/mild (stage I and II) and moderate/severe (stage III and IV) women with endometriosis disease.
Conclusion: The results of our study provide evidence that Bcl-۲ -۹۳۸C>A and
Bax -۲۴۸G>A single nucleotide polymorphisms might be associated with the risk of endometriosis.
