Positive correlation between Bax and Bcl-2 gene polymorphisms with the risk of endometriosis: A case-control study

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.

This study investigates the relationship between polymorphic variants of Bax -248G>A and Bcl-2 -938C>A promoter regions with endometriosis risk in an Iranian population.

In this case-control study, the polymorphisms of Bax -248G>A and Bcl-2 -938C>A promoter regions were analyzed in 127 Iranian cases and 125 controls who were referred to Ali-ibn-Abi Taleb Educational hospital, Zahedan, Iran between May 2022 and February 2023. The genotypic analysis was performed for all the subjects using the polymerase chain reaction-restriction fragment length polymorphism method.

The frequencies of mutant allele A carriers and the A allele of Bax -248G>A polymorphism showed about 2-fold significant increase of endometriosis risk (p = 0.04; p = 0.01, respectively). The frequencies of the mutant genotype AA and A allele carriers of Bcl-2 -938C>A polymorphism were approximately 4 and 2.5-fold higher in endometriosis compared to the control women, which were highly significant (p > 0.001). Moreover, the allele A frequency of Bcl-2 -938C>A was associated with a 2-fold higher risk of endometriosis (p > 0.001). Furthermore, the combination effects of these 2 single nucleotide polymorphisms showed that women with Bax -248G>A GG and Bcl-2 -938C>A AA variant alleles were associated with about 5 times higher risk of endometriosis (p > 0.001). 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.

The results of our study provide evidence that Bcl-2 -938C>A and Bax -248G>A single nucleotide polymorphisms might be associated with the risk of endometriosis.