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

Arefe Edalatian Kharrazi, Edalatian Kharrazi A, Forough Forghani, Forghani F, Jahantigh D, Danial Jahantigh, Ghazaey Zidanloo S, Saeedeh Ghazaey Zidanloo, Mahnaz Rezaei, Rezaei M, Mohsen Taheri, Taheri M
International journal of reproductive biomedicine · 2024 · vol. 22(6) , pp. 451–462 · doi:10.18502/ijrm.v22i6.16796 · PMID:39205918 · PMC11347765 · W4401272234
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Polymorphisms in the Bax and Bcl-2 gene promoter regions were associated with an increased risk of endometriosis in an Iranian population.

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This Iranian hospital-based case-control study evaluated whether promoter polymorphisms in pro- and anti-apoptotic genes, Bax -248G>A and Bcl-2 -938C>A, were associated with endometriosis risk, analyzing genotypes in 127 endometriosis cases and 125 controls using PCR-RFLP between May 2022 and February 2023. The mutant allele A of Bax -248G>A was associated with an approximately 2-fold increased risk, while Bcl-2 -938C>A mutant genotype AA and A allele carriers showed about 4- and 2.5-fold higher odds, respectively, with highly significant p values. Combination of Bax -248G>A and Bcl-2 -938C>A variants was associated with roughly a 5-fold higher risk, and mutant allele distribution differed between earlier (stage I–II) and later (stage III–IV) disease severity. The paper’s main caveat, as presented, is that it is limited to genetic association in this specific Iranian population and uses a case-control design rather than functional measurement. This paper is centrally about endometriosis — it tests Bax -248G>A and Bcl-2 -938C>A polymorphisms as genetic risk factors for endometriosis.

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Abstract

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 -248G > A and Bcl-2 -938C > A promoter regions with endometriosis risk in an Iranian population. MATERIALS AND METHODS: 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. RESULTS: 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 GGand 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. CONCLUSION: 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.
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DJ, FF, and MT conceived and designed the study. AEKh and MR did the data curation. SGhZ and DJ conducted the data analysis and drafted the initial manuscript. AEKh, FF, MR, and MT helped with the interpretation of the results and gave critical comments on the manuscript. All authors contributed to the final version of the manuscript.

Coi Statement

The authors declare that there is no conflict of interest.

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endometriosis

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