Tumor Necrosis Factor-Alpha Single Nucleotide Polymorphisms in Juvenile Systemic Lupus Erythematosus Publisher Pubmed



Tahghighi F¹ ; Ziaee V^{1, 2} ; Moradinejad MH² ; Rezaei A³ ; Harsini S³ ; Soltani S⁴ ; Sadr M⁴ ; Mahmoudi M⁵ ; Aghighi Y⁶ ; Rezaei N^{2, 3, 4}
Source: Human Immunology Published:2015

Abstract

Background: Juvenile systemic lupus erythematosus (JSLE) is a multi-system autoimmune disorder of unknown origin. Given the importance of the contribution of pro-inflammatory cytokines, including tumor necrosis factor-alpha (TNF-α), towards the pathogenesis of JSLE, this study was performed to assess TNFA gene polymorphisms in a case-control study. Methods: Fifty nine patients with JSLE were enrolled in this study as case group and compared with healthy control subjects. The frequency of alleles, genotypes, and haplotypes of TNFA single-nucleotide polymorphisms (SNPs) at positions -308 and -238 were evaluated, using polymerase chain reaction with sequence-specific primers method. Results: The G allele at position -238 in TNFA promoter region was significantly more frequent in patients with JSLE than in the healthy controls (P value. <. 0.001), while the frequency of A allele at the same position was significantly lower than controls. Furthermore, a significant positive association for G/G genotype at the same position was detected in patients' group compared with control subjects (P value. <. 0.001). The GA haplotype of TNFA (positions -308, -238) was significantly less frequent in case group than in controls (P value. <. 0.001), while GG was the most frequent haplotype for TNFA in the patient group, compared to controls (P value. <. 0.01). Conclusions: Pro-inflammatory cytokine gene polymorphisms may influence susceptibility to JSLE. Particular TNFA gene variants are associated with JSLE and could be used as a genetic marker for susceptibility to JSLE. © 2015 American Society for Histocompatibility and Immunogenetics.