Association of FCN2 gene rs3124954 and STAT4 gene rs7582694 polymorphisms with juvenile onset systemic lupus erythematosus and lupus nephritis in a sample of Egyptian children

Abstract

BackgroundJuvenile onset SLE (joSLE) is multifactorial autoimmune inflammatory disease with multiple genetic liabilities. Lupus nephritis (LN) is one of the major complications of SLE. FCN2 and STAT4 gene polymorphisms are potentially linked to SLE and LN susceptibility. Aim of the workWe aimed to assess the association of FCN2 polymorphism (rs3124954) and STAT4 polymorphism (rs7582694) with risk of developing joSLE and associated LN. MethodologyOur study included 100 SLE patients, 100 LN patients and 100 matched healthy controls. FCN2 polymorphism (rs3124954) and STAT4 polymorphism (rs7582694) were genotyped using real time PCR while STAT4 protein serum levels were measured utilizing ELISA technique. ResultsThe frequency of the major C allele of FCN2 rs3124954 genotype was significantly higher while the minor T allele was significantly decreased in joSLE patients than in control subjects. The patients carrying CC genotype showed 3.7-fold elevated risk for joSLE compared to minor allele T carriers (TT and CT genotypes) under recessive model, while FCN2 rs3124954 genotypes showed no significant association with LN under any genetic model. The frequency of STAT4 rs7582694 C allele was significantly higher in joSLE patients compared to healthy subjects (p = 0.02) and in LN patients compared to joSLE only patients (p = 0.03). In LN, STAT4 rs7582694 C allele was associated with advanced stages of the disease (p = 0.02). ConclusionOur results suggested that FCN2 rs3124954 SNP minor T allele has protective tendency towards joSLE. STAT4 (rs7582694) SNP minor C allele is associated with increased risk of joSLE and its associated LN.