PMID- 32319007 OWN - NLM STAT- MEDLINE DCOM- 20210211 LR - 20211204 IS - 1573-4978 (Electronic) IS - 0301-4851 (Linking) VI - 47 IP - 5 DP - 2020 May TI - Effects of the mTOR and AKT genes polymorphisms on systemic lupus erythematosus risk. PG - 3551-3556 LID - 10.1007/s11033-020-05446-y [doi] AB - 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. FAU - Saravani, Mohsen AU - Saravani M AD - Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. AD - Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. FAU - Shahraki-Ghadimi, Hossein AU - Shahraki-Ghadimi H AD - Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. AD - Bioinformatics and Computational Omics Lab (BioCOOL), Department of Biophysics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran. FAU - Maruei-Milan, Rostam AU - Maruei-Milan R AD - Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. FAU - Mehrabani, Mehrnaz AU - Mehrabani M AD - School of Medicine, Shahroud University of Medical Sciences, Shahroud, Iran. FAU - Mirzamohammadi, Solmaz AU - Mirzamohammadi S AD - Physiology Research Center, Institute of Basic and Clinical Physiology Sciences, Kerman University of Medical Sciences, Kerman, Iran. FAU - Nematollahi, Mohammad Hadi AU - Nematollahi MH AUID- ORCID: 0000-0002-9529-4077 AD - Student Research Committee, Kerman University of Medical Sciences, Kerman, Iran. mh.nematollahi@yahoo.com. AD - Department of Clinical Biochemistry, School of Medicine, Kerman University of Medical Sciences, Kerman, Iran. mh.nematollahi@yahoo.com. LA - eng GR - 98000356/Kerman University of Medical Sciences/ PT - Journal Article DEP - 20200421 PL - Netherlands TA - Mol Biol Rep JT - Molecular biology reports JID - 0403234 RN - EC 2.7.1.1 (MTOR protein, human) RN - EC 2.7.11.1 (AKT1 protein, human) RN - EC 2.7.11.1 (Proto-Oncogene Proteins c-akt) RN - EC 2.7.11.1 (TOR Serine-Threonine Kinases) SB - IM MH - Adult MH - Case-Control Studies MH - Disease Progression MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Lupus Erythematosus, Systemic/*genetics/metabolism MH - Male MH - Middle Aged MH - Polymorphism, Single Nucleotide MH - Proto-Oncogene Proteins c-akt/*genetics/metabolism MH - Risk Factors MH - TOR Serine-Threonine Kinases/*genetics/metabolism OTO - NOTNLM OT - AKT OT - Gene OT - Polymorphism OT - Systemic lupus erythematosus OT - mTOR EDAT- 2020/04/23 06:00 MHDA- 2021/02/12 06:00 CRDT- 2020/04/23 06:00 PHST- 2020/01/29 00:00 [received] PHST- 2020/04/09 00:00 [accepted] PHST- 2020/04/23 06:00 [pubmed] PHST- 2021/02/12 06:00 [medline] PHST- 2020/04/23 06:00 [entrez] AID - 10.1007/s11033-020-05446-y [pii] AID - 10.1007/s11033-020-05446-y [doi] PST - ppublish SO - Mol Biol Rep. 2020 May;47(5):3551-3556. doi: 10.1007/s11033-020-05446-y. Epub 2020 Apr 21.