Association study of rs924080 and rs11209032 polymorphisms of IL23R-IL12RB2 in a Northern Chinese Han population with Behcet’s disease

Abstract Objectives Two genome-wide association studies (GWAS) have identified the IL-23 receptor- IL-12 receptor β2 ( IL23R - IL12RB2 ) as the susceptibility genetic region in Turkish and Japanese population with Behcet’s disease (BD). We investigated the association of this region with BD in a Northern Chinese Han population. Methods A total of 407 patients with BD and 421 healthy controls were genotyped for single nucleotide polymorphisms (SNPs) rs924080 and rs11209032 using the Sequenom MassArray system. Results Statistically significant associations with BD were detected at two SNPs namely, rs924080 and rs11209032, both, by allele analysis (OR = 1.58, 95% CI = 1.25–2.00, P c  = 2.52 × 10 −4 , and OR = 1.45, 95% CI = 1.19–1.76, P c  = 3.46 × 10 −4 , respectively), and genotype analysis ( P c  = 1.22 × 10 −3  and  P c  = 1.77 × 10 −3 , respectively). Significant differences were observed in the genotype frequency distribution for these SNPs under the additive, dominant and recessive models (all P c P Conclusion SNPs (rs924080 and rs11209032) of the IL23R-IL12RB2 region were found to be associated with BD in a Northern Chinese Han population.