Association of interleukin-23 receptor (IL-23R) gene polymorphisms (rs11209026, rs2201841 and rs10889677) with Egyptian rheumatoid arthritis patients

Aim of the work: To analyse interleukin 23 receptors (IL23R) single-nucleotide polymorphism (SNPs) (rs11209026, rs2201841, and rs10889677) and to detect their association with Egyptian rheumatoid arthritis (RA) patients. Patients and methods: The study included 120 Egyptian RA patients and 120 healthy controls that were genotyped for the three SNPs by real time/polymerase chain reaction for the first SNP and restriction fragment length polymorphism/PCR (RFLP/PCR) in the last two SNPs. The disease activity score (DAS28) was assessed in the patients. Results: The studied patients had a mean age of 42.5 +/- 13.4 years, a disease duration of 5.2 +/- 3.5 years and consisted of 22 males and 98 females. Joint deformities were present in 35 and 66 patients had swollen joints. The rheumatoid factor (RF) was positive in 78.3% and the DAS28 was 3.2 +/- 1.2. Our data emphasize that the AA genotype of rs11209026 was significantly associated with RA patients compared to the controls (p=0.001). We did not find any significant association between either rs2201841 or rs10889677 and the development of RA (p=1, p=0.56 respectively). The AA allele in the 3 SNPs were remarkable frequent in those with deformities and positive RF. Conclusion: Our results suggest that IL23 receptor AA genotype variant of rs11209026 contributes to the aetiology of RA and may be considered a genetic marker and shared the susceptibility gene. We need to address the subgroup of patients who will benefit from the selective suppression of the IL-23 signalling which would represent new perspectives towards a personalized therapy of RA patients by further studies. (C) 2015 Production and hosting by Elsevier B. V. on behalf of Egyptian Society of Rheumatic Diseases.