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The ID genotype of MDM2 40 bp insertion/deletion polymorphism was associated with lower risk of SLE
  1. Saeedeh Salimi1,2,
  2. Mahnaz Rezaei1,2,
  3. Abbas Mohammadpour-Gharehbagh1,2,
  4. Mojtaba Sajadian1,2,
  5. Mahnaz Sandoughi3
  1. 1 Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
  2. 2 Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
  3. 3 Department of Internal Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
  1. Correspondence to Mahnaz Rezaei, Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran; mrezaei550{at}gmail.com

Abstract

Background In patients with systemic lupus erythematosus (SLE), loss of immunological tolerance to self-nuclear antigens and abnormal activation of self-reactive T and B cells lead to self-antibodies and immune complex production. The autoreactive lymphocytes are removed by the apoptotic process in healthy individuals; however, apoptosis disruption could cause accumulation of apoptotic bodies and nuclear debris. Therefore, apoptosis plays a crucial role in the pathogenesis of autoimmune diseases.

Purpose To investigate the association between two polymorphisms in an apoptotic-related gene, MDM2, and SLE.

Study design A case–control study was conducted on 200 patients with SLE and 206 healthy volunteers matched for age, sex, and ethnicity. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR methods were used for genotyping.

Results No association was found between the MDM2 T309G polymorphism (rs2279744) and SLE. The ID genotype of the insertion/deletion (I/D) polymorphism (rs3730485) was significantly lower in patients with SLE, and the ID genotype could be a protective factor for SLE. The DD genotype was not associated with SLE. The frequency of combined TT/ID and GG/ID genotypes of MDM2 T309G and I/D polymorphisms was lower in the patients with SLE and was associated with a lower risk of SLE. The frequency of the TD haplotype of MDM2 T309G and I/D polymorphisms was significantly lower in patients with SLE and could reduce the SLE risk.

Conclusions The ID genotype of the MDM2 I/D polymorphism was associated with a lower risk of SLE. There was no association between MDM2 T309G polymorphism and SLE.

  • gene
  • MDM2
  • polymorphism
  • systemic lupus erythematosus
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Footnotes

  • Contributors SS and MR planned the study and wrote the manuscript. AM-G and MSaj performed the experimental work. MSan diagnosed the patients and collected the specimens.

  • Funding This project was supported by the research deputy in Zahedan University of Medical Sciences (No. IR.zaums.REC.1396.3).

  • Competing interests None declared.

  • Ethics approval The ethical committee of Zahedan University of Medical Sciences approved the study.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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