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 Behçet'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^-3andP_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<0.05). The haplotypes (AT and GC) formed by the two SNPs were associated with BD (all permutation P<0.05). A meta-analysis also appeared to support the association of the two SNPs with BD.

Conclusion: SNPs (rs924080 and rs11209032) of the IL23R-IL12RB2 region were found to be associated with BD in a Northern Chinese Han population.

Keywords: Behcet’s disease; IL23R-IL12RB2; Northern Chinese Han population; Single nucleotide polymorphisms.