Background
Systemic lupus erythematosus (SLE) is a chronic inflammatory disease with variable clinical manifestations that can affect various organs and tissues. Estrogen is an important element that performs a vital role in the pathology of SLE. It acts on target cells through binding to estrogen receptors (ERs). This study aimed to assess the effect of ER alpha gene polymorphism on SLE disease activity and clinical manifestations. This study included 30 SLE female patients and 20 healthy subjects as controls. ERα gene (pvull and xbal) polymorphisms were genotyped using the real-time polymerase chain reaction (RT-PCR) and correlated with clinical and laboratory manifestations of SLE as well as the activity and severity scores.
Results
Regarding ERα (rs1 2234693 Pvull) polymorphism, the TC and CC genotypes were mainly associated with SLE patients, with a high frequency of the mutant C allele. The TT genotype was found mainly in the control group. Concerning rs2 9340799 Xbal polymorphisms, the AG, AA, and GG genotypes frequencies were not significantly different between patient and controls. The TC/AA, CC/GG, and CC/GG genotypes were the most prevalent combinations among SLE patients, while the later combination is completely absent from the control group. There was a significant statistical association with the AA genotype with the neurological disorders and/or hematological affection in SLE patients. The TC genotype was more related to serositis, leucopenia and pyuria, while the AA polymorphism was associated only with leucopenia.
Conclusions
We conclude that the study offers a clue to the associations of ERα gene polymorphisms in SLE disease, and the combinations relevant to certain clinical manifestations. Estrogen level itself does not affect SLE susceptibility or activity but the mutations in its receptors are the main pathogenic factor.
Background:Self-reactive antibodies are a characteristic of systemic lupus erythematosus [SLE]. These autoantibodies may attack any organ or tissue in the body causing organ failure. One class of anti-DNA antibodies, known as anti-DNA/N-methyl-D-aspartate receptor 2 [anti-DNA/NR2] antibodies, also interacts with the NR2 subunit [anti-NR2] of N-methyl-D-aspartate receptors [NMDARs]. Research suggests that anti-NMDAR antibodies contribute to the pathophysiology of SLE-related emotional and cognitive dysfunction.Objective:The goal of this study was to evaluate the prevalence and severity of systemic lupus erythematosus in individuals with anti-DNA/N-methyl-Daspartate receptor 2 [NR2] antibodies.Methodology: 60 SLE patients and 30 healthy controls had serum samples taken. Anti-NR2 antibodies in the serum were tested using an ELISA kit.Results: The average serum anti-NR2 antibody level in SLE patients was 34.10 ng/ml, whereas the level in healthy controls was only 11.60 ng/ml with a statistically significant difference [P<0.001].Serum anti-NR2 can significantlydiscriminate between SLE patients and healthy subjects, with diagnostic ability at best cut off value 13.26 ng/ml with high sensitivity and specificity.Conclusion:Serum anti-NR2 can be used as a new biomarker for SLE.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.