Rs4948496 within ARID5B gene is associated with clinical features of systemic lupus erythematosus in the Chinese Han population.

In our previous meta-analysis of genome-wide association study, we identified the single nucleotide polymorphism (SNP) rs4948496 (P=5.1x10(-11), odds ratio [OR]=0.85) within the ARID5B gene associated with systemic lupus erythematosus (SLE) in a Chinese population. To investigate its association with disease subphenotypes, we further analyzed the genotype data of rs4948496 in 4348 cases and 6679 controls from our previous meta-analysis and an independent replication cohort in this study. The SNP rs4948496 was significantly associated with SLE (P=1.61x10(-5), OR=0.88, 95% confidence interval [CI]=0.83-0.93) in our group. In case-only study, the genotype of rs4948496 was associated with antinuclear antibodies (P=0.03, OR=0.81, 95% CI=0.68-0.98) and anti-RNP (P=0.03, OR=0.86, 95% CI=0.76-0.99). This study showed that rs4948496 in ARID5B is associated with several subphenotypes of SLE and this gene may cause the complicacy of clinical features.