Objectives: Previous studies have demonstrated a potential role of STAT4 polymorphisms in increased juvenile idiopathic arthritis (JIA) risk in Caucasian populations; however, their role remains unclear in Han Chinese populations. We aimed to investigate single nucleotide polymorphisms (SNPs) of STAT4 and their role in JIA in Han Chinese populations.

Methods: This study included 205 JIA cases and 267 healthy controls. MassArray high-throughput DNA analyser and mass spectrometry were used to analyse 16 STAT4 SNP sites. The relationship between these SNPs and JIA risk was calculated using multiple logistic regressions.

Results: The G allele of rs11893432 was associated with an increased risk of JIA (odds ratio [OR]: 1.73; 95% confidence interval [CI]: 1.03-2.88; p=0.037). This relationship was observed in oligoarticular JIA (OR: 2.75; 95% CI: 1.29-5.83; p=0.026), and not in polyarticular JIA or systemic JIA. The GG motif was significantly correlated with oligoarticular JIA risk,compared to the CC+CG motif (OR: 1.88; 95% CI: 1.06-3.32; p=0.034). The C allele of rs1018981 and the A allele of rs10931481 were associated with a greater risk of polyarticular JIA (C allele: [OR: 7.82; 95% CI: 1.06-57.74; p=0.044]; A allele: [OR: 2.86; 95% CI: 1.23, 6.65; p=0.039).

Conclusions: The G allele of rs11893432 was significantly associated with JIA risk, particularly oligoarticular JIA, in Han Chinese populations. SNPs at rs1018981 and rs10931481 were correlated with higher risk of polyarticular JIA.

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