Transforming growth factor-β1 gene polymorphism in systemic lupus erythematosus female patients

Aim of the work To investigate whether transforming growth factor beta-1 (TGF-β1) (rs1800469) single nucleotide polymorphism (SNP) is associated with systemic lupus erythematosus (SLE) susceptibility and/or activity in Egyptian patients. Patients and methods This work included 70 SLE female SLE and 70 matched control. The SLE disease activity index (SLEDAI) and systemic lupus international collaborative clinics damage index (SLICC-DI) were assessed. The Taq Man allelic discrimination technique was applied for the genotyping of TGF-β1 (rs1800469) (SNP). Results The mean age of the patients was 29.9 ± 9 years, disease duration 4.29 ± 4.33 years and 4 (5.7 %) cases were juvenile. The antinuclear antibody was positive in all patients, anti-double stranded deoxyribonucleic acid in 57.1 %, the SLEDAI was 15.6 ± 7.8 (4–38) and SLICC-DI 0.3 ± 0.6 (0–3). Frequency of the AA genotype (n = 9) was higher in patients with discoid rash (n = 3, 33.3 %) than the GG genotype (n = 4/34, 11.7 %)(p = 0.01). Patients had a comparable frequency of the GG (48.6 % vs 50 %), GA (38.6 % vs 37.1 %) and AA (12.9 % vs 12.9 %) genotypes compared to the control (p = 0.98). There was no significant difference detected regarding the distribution of genotypes according to the SLEDAI (p = 0.66) and SLICC-DI (p = 0.96). Conclusion There was no association between the TGF-β1 gene (rs1800469) A/G SNP and disease activity and damage. The carriers of the GG variant of TGF-β1 rs1800469 SNP may be at higher risk of developing specific clinical manifestations such as discoid rash.