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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis

Mahnaz Rezaei1,2, Marzieh Ghasemi3,4, Mohsen Saravani1,5

  • 1Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.

Personalized Medicine
|February 17, 2025
PubMed

Insights

Genetic variations in the AKT1 gene, specifically rs1130214 and rs1130233, are linked to an increased risk of preeclampsia (PE). Further research is needed to understand the molecular mechanisms.

Area of Science:

  • Genetics and Molecular Biology
  • Obstetrics and Gynecology
  • Biochemistry

Background:

  • Preeclampsia (PE) is a serious pregnancy complication characterized by hypertension and proteinuria.
  • The AKT1 gene plays a crucial role in cellular signaling pathways relevant to PE development.

Purpose of the Study:

  • To investigate the association between specific AKT1 gene polymorphisms (rs2494732, rs1130233, and rs1130214) and the risk of developing preeclampsia.
  • To explore the potential functional impact of these polymorphisms using in silico analysis.

Main Methods:

  • Genotyping of AKT1 polymorphisms (rs2494732, rs1130233, rs1130214) was performed using the PCR-RFLP technique.
  • In silico analyses were conducted utilizing SpliceAid2, RNAsnp, and STRING tools to predict the functional consequences of the identified variants.

Main Results:

  • The AKT1 rs1130233 polymorphism was significantly associated with an increased risk of PE in log-additive and allelic models.
  • A notable association was found between the AKT1 rs1130214 variant and PE risk across multiple genetic models.
  • In silico analysis suggested that rs2494732 creates a new SRP-40 binding site, while rs1130214 and rs1130233 lead to the loss of critical protein binding sites.

Conclusions:

  • The AKT1 rs1130233 and rs1130214 polymorphisms are associated with an elevated risk of preeclampsia.
  • These findings highlight the potential role of AKT1 gene variations in the pathogenesis of PE.
Abstract

Keywords:
AKT1in silicoonsetpolymorphismpreeclampsiaseverity

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