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Interleukin-4 single nucleotide polymorphisms in juvenile systemic lupus erythematosus
M Mahmoudi1, F Tahghighi, V Ziaee
1School of Nutrition and Dietetics, Tehran University of Medical Sciences, Tehran, Iran.
International Journal of Immunogenetics
|October 17, 2014
Summary
Specific gene variants of interleukin-4 (IL-4) are associated with juvenile systemic lupus erythematosus (JSLE). These IL-4 gene polymorphisms may play a role in the development of this chronic inflammatory disease.
Area of Science:
- Immunogenetics
- Rheumatology
- Molecular Biology
Background:
- Juvenile systemic lupus erythematosus (JSLE) is a complex autoimmune disease influenced by genetic and environmental factors.
- Cytokines, such as interleukin-4 (IL-4), are implicated in the inflammatory processes underlying JSLE.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in the IL-4 and IL-4 receptor alpha (IL-4RA) genes and the susceptibility to JSLE.
- To explore the potential role of specific IL-4 gene variants in the pathogenesis of JSLE.
Main Methods:
- A case-control study involving 59 JSLE patients and 140 healthy controls.
- Genotyping of IL-4 gene SNPs (-1098, -590, -33) and IL-4RA gene SNP (+1902) using polymerase chain reaction with sequence-specific primers.
Main Results:
- Specific alleles (C at -590 and -33, T at -1098) and genotypes (C/C at -33, C/C at -590, T/T at -1098) of the IL-4 gene were significantly more common in JSLE patients.
- Negative associations were observed for certain IL-4 haplotypes (TTC, GCC, TTT) and a positive association for the TCC haplotype.
- No significant associations were found between IL-4RA gene polymorphisms and JSLE susceptibility.
Conclusions:
- Certain single nucleotide polymorphisms and haplotypes of the IL-4 gene are significantly associated with an increased risk of developing JSLE.
- These findings suggest that specific IL-4 gene variants may contribute to the pathophysiology of juvenile systemic lupus erythematosus.
- IL-4RA gene polymorphisms do not appear to be associated with JSLE susceptibility in this study population.
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