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

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Abstract

The systemic lupus erythematosus (SLE) is an autoimmune disease, leading to inflammatory response and systemic consequences. The mammalian target of rapamycin (mTOR) is a therapeutic target for autoimmune diseases like SLE. The aim of this study was to evaluate the effects of the mTOR rs2295080 and rs2536 polymorphisms and AKT1 rs2494732 gene polymorphism on SLE development. 2 ml of peripheral blood was collected from 165 SLE patients and 170 controls in EDTA-containing tubes. The salting-out and PCR–RFLP methods were used for DNA extraction and genotype analysis, respectively. Based on the regression analysis, the frequency of TT genotype of mTOR rs2295080 polymorphism was significantly higher in the case group than that of the control group, with a 2.6-fold increased risk of SLE. There was also a significant difference between the two groups in terms of allelic distribution. No statistically significant association was found between The AKT1 rs2494732 and mTOR rs2536 polymorphisms and SLE development. Our results showed that the TT genotype and T allele of mTOR rs2295080 polymorphism were risk factors for developing SLE. However, there was no significant association between mTOR rs2536 and AKT1 rs2494732 polymorphisms and the SLE risk.

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Funding

This study was fully supported by the Student Research Committee of Kerman University of Medical Sciences, Kerman, Iran (Grant No. 98000356).

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Authors and Affiliations

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

    Mohsen Saravani & Hossein Shahraki-Ghadimi

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

    Mohsen Saravani & Rostam Maruei-Milan

  3. Bioinformatics and Computational Omics Lab (BioCOOL), Department of Biophysics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran

    Hossein Shahraki-Ghadimi

  4. School of Medicine, Shahroud University of Medical Sciences, Shahroud, Iran

    Mehrnaz Mehrabani

  5. Physiology Research Center, Institute of Basic and Clinical Physiology Sciences, Kerman University of Medical Sciences, Kerman, Iran

    Solmaz Mirzamohammadi

  6. Student Research Committee, Kerman University of Medical Sciences, Kerman, Iran

    Mohammad Hadi Nematollahi

  7. Department of Clinical Biochemistry, School of Medicine, Kerman University of Medical Sciences, Kerman, Iran

    Mohammad Hadi Nematollahi

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  1. Mohsen Saravani
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Correspondence to Mohammad Hadi Nematollahi.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Saravani, M., Shahraki-Ghadimi, H., Maruei-Milan, R. et al. Effects of the mTOR and AKT genes polymorphisms on systemic lupus erythematosus risk. Mol Biol Rep 47, 3551–3556 (2020). https://doi.org/10.1007/s11033-020-05446-y

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  • DOI: https://doi.org/10.1007/s11033-020-05446-y

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