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.
- systemic lupus erythematosus
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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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