Objectives: Previous genome-wide association studies have demonstrated an association between the IL-10 region and Behçet's disease (BD) in Turkish and Japanese populations. Our aim was to fully examine the relationship between IL-10 and BD, the associations between BD and single nucleotide polymorphisms (SNPs) in IL-10-mediated signalling pathways (JAK1, TYK2, and STAT3) were examined in Korean patients with BD.
Methods: DNA samples were obtained from 223 patients who met the international study group criteria for BD and from 222 age- and sex-matched healthy controls. Twenty-four tag SNPs in JAK1, STAT3, and TYK2 were selected for genotyping based on the Japanese panel of international HapMap data with a minor allele frequency >5% and r2 >0.8.
Results: The allele-based analysis showed that the T allele of rs310245 in JAK1 was associated with BD (odds ratio [95% confidence interval] = 1.34 [1.03-1.76], p=0.031), which lost statistical significance after permutation-based correction for multiple testing. In the genotype-based analysis, the JAK1 rs310245 TT homozygote (1.79 [1.14-2.82], p=0.012) and the STAT3 rs2293152 GG homozygote (2.01 [1.16-3.47], p=0.011) showed associations with BD. However, these associations did not achieve significance after correction for multiple testing. We did not observe any genetic interaction between the JAK1 rs310245 TT homozygote and the STAT3 rs2293152 GG homozygote. In the haplotype analysis, GT haplotype at rs17127024 and rs310245 (1.34 [1.03-1.74], p=0.032), and the AA haplotype at rs2256298 and rs3818753 (1.41 [1.03-1.92], p=0.034) in JAK1 were associated with BD, but lost statistical significance after correction for multiple testing.
Conclusions: There was no significant association between BD and SNPs in IL-10-mediated intracellular signalling in Korean patients.