GATA3 rs3824662 gene polymorphism as possible risk factor for systemic lupus erythematosus

Background There is no report about the association between GATA3 rs3824662 polymorphism and systemic lupus erythematosus (SLE). Objective To investigate the possible role of GATA3 rs3824662 polymorphism as a susceptibility risk factor for either adult SLE (aSLE) or pediatric SLE (pSLE) and to evaluate its role in the development of lupus nephritis (LN) in pSLE. Methods Typing of GATA3 rs3824662 polymorphism was done using real-time polymerase chain reaction for three groups; 104 pSLE patients, 140 aSLE patients and 436 age- and sex-matched healthy controls. Results Non-significant differences were found between SLE patients and healthy controls for the allele and genotype frequencies of GATA3 rs3824662 (p > 0.05). In pSLE; the AC genotype was associated with LN (p = 0.04); the A allele and AC genotype were associated with persistent proteinuria (p = 0.036 and 0.01, respectively) and both the A allele and AA genotype were associated with higher chronicity index (p = 0.031 and 0.04, respectively). In aSLE; the C allele was associated with cellular cast (p = 0.03) and thrombocytopenia (p = 0.01). Logistic regression analysis revealed significant association between the AC+AA genotypes and the prediction of LN and renal active disease in pSLE (p = 0.04 and 0.01, respectively). Conclusion GATA3 rs3824662 is not associated with susceptibility to SLE either in adult or in pediatric patients; however, in pSLE patients, the heterozygous AC genotype could be considered a risk factor for LN. At the same time, the AC and AA genotypes could be considered as predictors for LN and active renal disease. However, the small sample size is a limiting factor of the present study when interpreting the positive association.