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Reproductive Biomedicine
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Volume 22, Issue 6 (June 2024)
IJRM 2024, 22(6): 451-462 |
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Edalatian Kharrazi A, Forghani F, Jahantigh D, Ghazaey Zidanloo S, Rezaei M, Taheri M. Positive correlation between Bax and Bcl-2 gene polymorphisms with the risk of endometriosis: A case-control study. IJRM 2024; 22 (6) :451-462
URL: http://ijrm.ir/article-1-3246-en.html
URL: http://ijrm.ir/article-1-3246-en.html
Arefe Edalatian Kharrazi1 
, Forough Forghani * 2, Danial Jahantigh3 , Saeedeh Ghazaey Zidanloo4 , Mahnaz Rezaei5 , Mohsen Taheri6
, Forough Forghani * 2, Danial Jahantigh3 , Saeedeh Ghazaey Zidanloo4 , Mahnaz Rezaei5 , Mohsen Taheri6
1- Department of Obstetrics and Gynecology, Zahedan University of Medical Sciences, Zahedan, Iran.
2- Department of Obstetrics and Gynecology, Zahedan University of Medical Sciences, Zahedan, Iran. ,forghani_f@yahoo.com
3- Department of Biology, Faculty of Sciences, University of Sistan and Baluchestan, Zahedan, Iran. & Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
4- Department of Cell and Molecular Biology, Kosar University of Bojnord, Bojnord, Iran.
5- Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
6- Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
2- Department of Obstetrics and Gynecology, Zahedan University of Medical Sciences, Zahedan, Iran. ,
3- Department of Biology, Faculty of Sciences, University of Sistan and Baluchestan, Zahedan, Iran. & Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
4- Department of Cell and Molecular Biology, Kosar University of Bojnord, Bojnord, Iran.
5- Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
6- Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Abstract: (265 Views)
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 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.
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.
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 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.
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.
Type of Study: Original Article |
Subject:
Reproductive Genetics
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