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

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.