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Association of Genetic Variations in The PIK3-AKT-mTOR Pathway with Endometriosis Susceptibility: A Preliminary
Rahele Ghasemian Moghadam1, Forough Forghani1, Danial Jahantigh2,3
1Department of Obstetrics and Gynecology, Faculty of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Background:
Endometriosis is a complex, heterogeneous disease with several genetic and non-genetic pathogenic factors. The phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin (PI3K/AKT/mTOR) pathway may influence both progression and different stages of endometriosis. This study aims to investigate the effects of the PIK3CA, AKT1, and mTOR single nucleotide polymorphisms (SNP) with endometriosis risk in an Iranian cohort.
Materials And Methods:
In this case-control study, samples from 127 patients and 125 controls were examined using allelespecific polymerase chain reaction (AS-PCR) polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results:
The PIK3CA rs2230461 and AKT1 rs1130233 had a more than 2.5-fold significant increase in disease risk in a homozygous mutation [95% confidence interval (CI): 1.119 -5.985; 95% CI: 1.093-7.535, respectively]. However, the risk was reduced by half or less than half in carriers of the mutant alleles for mTOR rs2295080 (95% CI: 0.108- 0.927, P=0.036). We confirmed that moderate/severe endometriosis was approximately five times more common in patients with the PIK3CA mutant genotype [odds ratio (OR): 4.800, 95% CI: 2.171-10.611, P<0.001], and over two times more frequent in patients with the AKT1 mutant variant (OR: 2.674, 95% CI: 1.261-5.670, P=0.010). The mutant allele for mTOR rs2295080 was more frequent in patients with stages I and II endometriosis (P=0.022).
Conclusion:
The results show that PIK3CA rs2230461 and AKT1 rs1130233 SNPs are risk factors for endometriosis and the mTOR rs2295080 gene polymorphism is a protective factor for the development of endometriosis in an Iranian cohort. The PIK3CA rs2230461, AKT1 rs1130233, and mTOR rs2295080 gene polymorphisms should be further investigated as potential candidate SNPs for predicting endometriosis susceptibility.
Insights
Specific gene variants in PIK3CA and AKT1 increase endometriosis risk, while an mTOR variant appears protective in an Iranian population. These single nucleotide polymorphisms (SNPs) may help predict disease susceptibility.
Area of Science:
- Genetics
- Molecular Biology
- Reproductive Medicine
Background:
- Endometriosis is a complex disease influenced by genetic and non-genetic factors.
- The PI3K/AKT/mTOR pathway is implicated in endometriosis progression.
- Investigating specific gene polymorphisms is crucial for understanding disease mechanisms.
Purpose of the Study:
- To examine the association between PIK3CA, AKT1, and mTOR single nucleotide polymorphisms (SNPs) and endometriosis risk in an Iranian cohort.
- To identify potential genetic markers for endometriosis susceptibility.
Main Methods:
- Case-control study design.
- Analysis of 127 endometriosis patients and 125 controls.
- Utilized allele-specific polymerase chain reaction (AS-PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP).
Main Results:
- PIK3CA rs2230461 and AKT1 rs1130233 SNPs significantly increased endometriosis risk (OR > 2.5).
- Moderate/severe endometriosis was associated with PIK3CA (OR: 4.800) and AKT1 (OR: 2.674) mutant genotypes.
- The mTOR rs2295080 polymorphism showed a protective effect, reducing disease risk (OR < 0.5) and was more frequent in early-stage endometriosis.
Conclusions:
- PIK3CA rs2230461 and AKT1 rs1130233 SNPs are identified as risk factors for endometriosis.
- The mTOR rs2295080 gene polymorphism acts as a protective factor.
- These SNPs warrant further investigation as predictive markers for endometriosis susceptibility.
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