OBJECTIVE: IL-10 is a potent anti-inflammatory cytokine that plays important roles in the pathogenesis of Behcet's disease (BD). Two genome-wide association studies have identified IL10 as a potential risk factor for BD. Here, we investigated the association between IL10 polymorphisms and BD in Chinese Han. METHODS: 407 BD patients and 679 healthy controls were enrolled, and genotyped by Sequenom MassArray system (Sequenom iPLEX assay, San Diego, CA). RESULTS: The frequency of risk allele of rs1800871 was notably higher in BD patients than in controls (71.9% vs. 66.2%, OR: 1.30, 95%CI: 1.08-1.58, pc=0.024). Similarly, rs1518111, which showed strong linkage disequilibrium (r(2)=1) with allele rs1800871, was also associated with BD (pc=0.026). Rs3021094 was in association with BD in a dominant model (pc=0.035), and the haplotype (GACC) formed by rs1518111, rs3021094, rs3790622, and rs1800871 was associated with BD (pc=0.023). Results obtained from meta-analysis combined with our data showed that rs1800871 and rs1518111 were associated with BD. CONCLUSION: IL10 may be the susceptibility gene for BD in Chinese Han population.
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