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Inicio Allergologia et Immunopathologia Association of interleukin-2 and interferon-γ single nucleotide polymorphisms w...
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Vol. 44. Issue 5.
Pages 422-426 (September - October 2016)
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Vol. 44. Issue 5.
Pages 422-426 (September - October 2016)
Original Article
DOI: 10.1016/j.aller.2015.12.005
Association of interleukin-2 and interferon-γ single nucleotide polymorphisms with Juvenile systemic lupus erythematosus
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S. Harsinia, V. Ziaeeb,c, F. Tahghighic, M. Mahmoudid, A. Rezaeia, S. Soltanie, M. Sadre, M.H. Moradinejadc, Y. Aghighif, N. Rezaeia,c,e,g,
Corresponding author
rezaei_nima@tums.ac.ir

Corresponding author.
a Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
b Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
c Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
d School of Nutrition and Dietetics, Tehran University of Medical Sciences, Tehran, Iran
e Molecular Immunology Research Center and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
f Department of Pediatrics, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
g Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
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Tables (2)
Table 1. IL-2 and IFN-γ allele and genotype polymorphisms in Iranian patients with juvenile SLE, and controls.
Table 2. IL-2 haplotype polymorphism in Iranian patients with juvenile SLE, and controls.
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Abstract
Purpose

Juvenile systemic lupus erythematosus (JSLE) is a severe and chronic autoimmune disease of unknown origin. Inflammatory cytokines can play a pivotal role in the pathogenesis of JSLE, while their secretion is under genetic control. The current investigation was performed to analyse the associations of particular single nucleotide polymorphisms (SNPs) of interleukin-2 (IL-2) and interferon-gamma (IFN-γ) genes in a case control study.

Materials and methods

The allele, genotype and haplotype frequencies of the polymorphic IL-2 (G/T at −330, rs2069762, and G/T at +166, rs2069763) and IFN-γ (A/T at +874, rs2430561) genes were estimated in 59 patients with JSLE by contrast with 140 healthy controls using polymerase chain reaction with sequence-specific primers method.

Results

Results of the analysed data revealed a negative allelic association for JSLE in IL-2 −330/T (P=0.02), as well as a positive allelic association for IL-2 −330/G (P=0.02). IL-2 GG genotype (−330) in the patient group was also significantly overrepresented (P<0.001), while IL-2 GT genotype (−330) was notably decreased in the patients with JSLE (P<0.001). Additionally, the frequency of IL-2 (−330, +166) GT haplotype was significantly higher in the patient group (P<0.001).

Conclusion

IL-2 cytokine gene polymorphisms could affect individual susceptibility to JSLE and can take on the role of possible genetic markers for vulnerability to JSLE.

Keywords:
Interleukin-2
Interferon-gamma
Single nucleotide polymorphism
Systemic lupus erythematosus
Children

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