STAT3 rs1053005 (T/C) contributes to Behçet's disease risk and ocular lesions

Signal transducer and activator of transcription-3 (STAT3) is a nuclear transcription factor that seems to be involved in the pathogenesis of several autoimmune diseases. Herein, we investigated the association between polymorphisms in the 3'UTR of STAT3 with Behçet's disease (BD) susceptibility in a Tunisian cohort.

This study included 110 patients with BD and 116 age-unmatched healthy controls. STAT3 rs1053004 and rs1053005 polymorphisms were genotyped by mutagenically separated polymerase chain reaction with newly designed primers.

The rs1053005 CC genotype and minor C allele were more frequent in patients with BD than in healthy controls (19.1% vs. 7.8% and 37% vs. 26%, respectively). The CC genotype was found to be associated with BD in the co-dominant and recessive models (OR = 2.66, 95%CI = 0.97-7.29, p = 0.05 and OR = 2.67, 95%CI = 1.01-7.02, p = 0.04, respectively). STAT3 rs1053004 was found not to be in the Hardy-Weinberg equilibrium. The G allele was more frequent in BD patients than in healthy controls (36% versus 21%). Moreover, STAT3 rs1053005 minor C allele was significantly associated with severe ocular lesions in BD (OR = 2.76, 95%CI = 1.54-4.94, P_c = 0.0002). The rs1053004-rs1053005 A-C haplotype was significantly associated with severe ocular lesions (OR = 2.68, 95%CI = 1.24-5.82, P_c = 0.042).

STAT3 rs1053004 and rs1053005 polymorphisms and G-C haplotype are associated with BD risk in our study cohort. The A-C haplotype was significantly associated with severe ocular lesions in BD. Studies in large sample sizes are required to verify and extend these findings. Key points • STAT3 rs1053005 CC genotype is associated with BD susceptibility. • STAT3 rs1053005 C allele is associated with severe ocular manifestations in BD. • The AC haplotype is associated with severe ocular manifestations in BD.