The association of SDF-1 and CXCR4 gene polymorphisms with rheumatoid arthritis susceptibility in the Iranian population

Background

Stromal cell-derived factor-1 (SDF-1) and CXC motif chemokine receptor 4 (CXCR4) play critical roles in the pathogenesis of rheumatoid arthritis (RA) by regulating immune cell migration and inflammatory responses. This study investigates the association of SDF-1 and CXCR4 gene polymorphisms with the risk of developing RA in an Iranian population.

Methods

The study comprised 93 patients with RA and 98 gender- and age-matched healthy controls. The genotypes of SDF-1 G801A (rs1801157) and CXCR4 C138T (rs2228014) were detected using the restriction fragment length polymorphism (RFLP) and amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), respectively.

Results

A significant reduction in susceptibility to RA was associated with the SDF-1 G801A polymorphism in homozygous individuals (OR = 0.383; 95 % CI = 0.165–0.888) and in recessive models (OR = 0.418; 95 % CI = 0.185–0.946). In contrast, the CXCR4 C138T variant was linked to an increased susceptibility to RA in the recessive model (OR = 2.557; 95 % CI = 1.024–6.384). Therefore, the SDF-1 polymorphism may confer a protective effect against RA, while the CXCR4 polymorphism may heighten the risk of developing the condition.

Conclusion

This is the first study in an Iranian population demonstrating these associations. Our results indicate that genetic variations in SDF-1 and CXCR4 may significantly influence RA susceptibility.