IL-4 and MTHFR gene polymorphism in rheumatoid arthritis and their effects

• Significantly association found IL-4 gene 70 bp VNTR polymorphism and MTHFR C677T polymorphism with development of RA.
• MTHFR/IL-4 CCP2P2 combine genotype was estimated to have protective effect against RA.
• We found that there was a difference between MTHFR genotypes and ocular involvement in patients with RA.

Rheumatoid arthritis (RA) is a chronic, systemic inflammatory disease that mainly affects the joints. Polymorphic variations of the cytokine genes and MTHFR gene have received attention as potential markers of susceptibility, severity, and/or protection in RA. The aim of this study was to investigate the MTHFR C677T and IL-4 70 bp VNTR variation in Turkish patients with RA and evaluate if there was an association with clinical features, especially ocular involvement, in RA patients.The study included 297 persons (147 patients with RA and 150 healthy controls). Genomic DNA was isolated and genotyped using PCR assay for the MTHFR gene C677T and IL-4 gene 70 bp VNTR polymorphisms.Our results show that there was statistically significant difference between the groups with respect to IL-4 genotype (p = 0.01) and allele frequencies (p < 0.002). There was no statistical significant difference in the genotype frequencies MTHFR gene, but allele frequencies showed statistically significant association (p = 0.01). When we examined MTHFR and IL-4 genotype frequencies according to the clinical characteristics, we found that there was a difference between MTHFR genotypes and ocular involvement but it is not to a statistical significant degree (p = 0.09). In the combined genotype analysis, MTHFR/IL-4 CCP2P2 combine genotype was estimated to have protective effect against RA, CTP1P2 combine genotype was found to be risk for RA.Our findings suggest that there is an association of IL-4 gene 70 bp VNTR polymorphism and MTHFR C677T polymorphism with susceptibility of a person for development of RA.