Association of IL-23R and IL-10 variations with Behçet disease: a genetic analysis study

Behcet disease (BD) is an autoimmune and autoinflammatory disease mainly affecting the Silk Road countries. The interindividual severity of BD depends on differences in the polymorphic profiles of the patients. One of the most prominent markers, HLA-B51 positivity, is also observed in 40-60% of patients with BD on the Silk Road. Inflammatory markers such as interleukin 10 (IL-10) and interleukin 23 receptor (IL-23R) are also widely associated with BD etiology. The polymorphisms on these genes may change the susceptibility to BD. In this case-control study, we assessed the associations of IL-10 rs3024498 and IL-23R rs10889677 single-nucleotide polymorphisms (SNPs) with BD susceptibility, if any. Two hundred eighty HLA-B51-positive patients with BD and 300 healthy controls were genotyped for these SNPs using RFLP-PCR. The chi-square test was used for genotyping. We found that IL-23R rs10889677 CC and IL-10 rs3024498 CT genotype frequencies were higher in the BD group than in the control group (p < 0.0001 and p = 0.0293, respectively). The recessive model (AA + CC vs. AC) and combined genotype (AC + CT) results were also statistically significant (p < 0.0001 and p = 0.0364, respectively). We conclude that IL-23R rs10889677 and IL-10 rs3024498 SNPs may be associated with the susceptibility to BD.

Automated summary

The study found that single-nucleotide polymorphisms (SNPs) of IL-23R rs10889677 and IL-10 rs3024498 are associated with susceptibility to BD, providing guidance for the etiology research of the disease.