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Effects of the mTOR and AKT genes polymorphisms on systemic lupus erythematosus risk

Mohsen Saravani1,2, Hossein Shahraki-Ghadimi1,3, Rostam Maruei-Milan2

  • 1Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.

Molecular Biology Reports
|April 23, 2020
PubMed

Insights

The TT genotype and T allele of the mammalian target of rapamycin (mTOR) rs2295080 polymorphism significantly increase systemic lupus erythematosus (SLE) risk. Other tested mTOR and AKT1 gene variations showed no association with SLE development.

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Rheumatology

Background:

  • Systemic lupus erythematosus (SLE) is a complex autoimmune disease with significant systemic inflammatory consequences.
  • The mammalian target of rapamycin (mTOR) pathway is recognized as a potential therapeutic target for autoimmune disorders, including SLE.
  • Genetic variations in key molecular pathways may influence individual susceptibility to SLE.

Purpose of the Study:

  • To investigate the association between specific polymorphisms in the mTOR (rs2295080, rs2536) and AKT1 (rs2494732) genes and the risk of developing SLE.
  • To identify potential genetic risk factors that could contribute to SLE pathogenesis.

Main Methods:

  • Peripheral blood samples were collected from 165 SLE patients and 170 healthy controls.
  • DNA was extracted using the salting-out method.
  • Genotyping and analysis of mTOR rs2295080 and rs2536, and AKT1 rs2494732 polymorphisms were performed using the PCR-RFLP technique.

Main Results:

  • The TT genotype of the mTOR rs2295080 polymorphism was found at a significantly higher frequency in SLE patients compared to controls.
  • Individuals with the TT genotype of mTOR rs2295080 exhibited a 2.6-fold increased risk of developing SLE.
  • A significant difference in allelic distribution for mTOR rs2295080 was observed between the patient and control groups.
  • No statistically significant association was detected between the mTOR rs2536 and AKT1 rs2494732 polymorphisms and SLE development.

Conclusions:

  • The TT genotype and the T allele of the mTOR rs2295080 polymorphism are identified as significant risk factors for developing SLE.
  • The studied polymorphisms in mTOR rs2536 and AKT1 rs2494732 do not appear to be associated with SLE risk in the studied population.
  • These findings highlight the role of specific mTOR genetic variations in SLE susceptibility, suggesting potential avenues for further research.
Keywords:
AKTGenePolymorphismSystemic lupus erythematosusmTOR

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