Although previous genome-wide association studies in various cohorts have identified several susceptibility loci underlying Behçet's disease (BD), this has not yet led to a breakthrough in the management of BD.Objective:
This study aimed to further investigate the association of 26 candidate single nucleotide polymorphisms with previous genome-wide association studies–identified nearly positivePvalues (5.0 × 10−8
A case-control association study was performed in 1206 patients with BD and 2475 healthy controls. Genotyping was performed using iPLEX Gold genotyping assay. Gene expression and cytokine production was quantified by real-time PCR and ELISA.Results:
The results showed that significantly higher frequencies of theIL23R-IL12RB2/rs924080 TT genotype (P= 2.03 × 10−8; odds ratio [OR] = 1.50),IL23R-IL12RB2/rs12141431 CC genotype (P= 2.18 × 10−8; OR = 1.53),IL10/rs1800871 TT genotype (P= 5.88 × 10−8; OR = 1.47), andIL10/rs3024490 TT genotype (P= 2.80 × 10−5; OR = 1.34) were found in BD. Functional experiments showed an increasedIL23Rexpression and IL-17 production in rs12141431/CC genotype carriers compared with GG genotype carriers. A decreasedIL10expression and IL-10 production was observed in rs3024490/TT genotype carriers as compared with GG genotype carriers.Conclusions:
Our findings not only confirmed the association ofIL10/rs1800871 andIL23R-IL12RB2/rs924080 with BD but also identified 2 susceptibility single nucleotide polymorphisms inIL10andIL23R-IL12RB2(rs3024490 and rs12141431) with BD in Han Chinese.