Association of UBASH3A gene polymorphisms and systemic lupus erythematosus in a Chinese population

• We explored the correlation between UBASH3A polymorphisms and susceptibility to SLE.
• UBASH3A rs3788013 variant contributes to the risk of SLE in a Chinese population.
• Polymorphisms in the UBASH3A gene influence the clinical phenotype of SLE.

Recent evidence has demonstrated that UBASH3A gene was associated with multiple autoimmune diseases. The aim of this study was to explore the association between UBASH3A gene single-nucleotide polymorphisms (SNPs) and systemic lupus erythematosus (SLE) in a Chinese Han population. Four UBASH3A polymorphisms (rs11203203, rs3788013, rs2277798, and rs1893592) were genotyped using the Fluidigm 192.24 Dynamic Array™ Integrated Fluidic Circuit (IFC). Data were analyzed by SPSS 11.5 software. A total of 792 SLE patients and 777 healthy controls were included in this study. The CC genotype and C allele of rs3788013 polymorphism were more frequent in the patient group than in controls (OR = 1.583, 95% CI = 1.095–2.287; OR = 1.258, 95% CI = 1.083–1.461, respectively). We also found a statistical significance under the recessive model (OR = 1.298, 95% CI = 1.049–1.607, p = 0.017). The frequency of variant genotype AC of rs3788013 was associated with the phenotype of vasculitis (p = 0.012). A statistically significant association was observed between UBASH3A rs1893592 C allele and skin rash, oral ulcer and arthritis (p < 0.05). Moreover, we found that the genotype distribution of rs2277798 was significantly associated with hematuria in the SLE patients (p = 0.003). However, UBASH3A rs11203203, rs2277798, and rs1893592 polymorphisms were not associated with the risk of SLE (p > 0.05). The findings suggest that UBASH3A gene might contribute to SLE susceptibility and influence the clinical phenotype of the disease. Further studies are necessary to elucidate the exact role of UBASH3A gene in the pathogenesis of SLE.