The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-31 DOI:10.1080/17410541.2024.2446006

Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi

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Abstract

Background: Preeclampsia (PE) is a gestational disease associated with developing hypertension and proteinuria.

Aim: This study investigated the effects of AKT1 polymorphisms, a key enzyme in cellular signal transmission that regulates various cellular processes associated with PE.

Methods: The PCR-RFLP method was employed to genotype AKT1 rs2494732, rs1130233, and rs1130214 polymorphisms. In silico analysis was conducted using SpliceAid2, RNAsnp, and STRING tools.

Results: The AKT1 rs1130233 variant was associated with an increased risk of PE in log-additive and allelic models. A significant relationship was also observed between the rs1130214 variant and PE risk in several genetic models. Results from the SpliceAid2 server indicated that the rs2494732 A to G substitution creates a new binding site for the SRP-40 protein. Several key protein binding sites were lost for rs1130214 (C-to-A) and rs1130233 (C-to-T) mutations. However, RNAsnp analysis did not show significant changes in secondary structure.

Conclusion: In conclusion, the AKT1 rs1130233 and rs1130214 polymorphisms were found to be associated with an increased risk of PE.

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Personalized medicine

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