Influence of and Gene Polymorphisms on the Spondyloarthritis Immunopathogenesis, Regardless of HLA-B27, in a Brazilian Population.

BACKGROUND AND OBJECTIVES

Spondyloarthritis (SpA) represents a heterogeneous group of immune-mediated inflammatory diseases that have overlapping clinical features, genetic predisposition, and pathogenic mechanisms. Hence, we investigated, through a case-control study, whether single-nucleotide polymorphisms of and genes are associated with SpA, ankylosing spondylitis (AS), and psoriatic arthritis (PsA) in a mixed Brazilian population.

METHODS

Genotyping of -308 (rs1800629), -238 (rs361525), (rs2275913), (rs763780), and polymorphisms was performed in 243 patients with SpA and 210 controls from Southern Brazil using SSOP-Luminex (One Lambda) and PCR-SSP assays.

RESULTS

Significant associations were confirmed between the HLA-B27 marker and SpA, AS, and PsA diseases. While -308 (rs1800629) AA/GA, (rs2275913) AA/GA, and (rs763780) CC/TC genotype frequencies were associated, in the dominance inheritance model, with SpA and AS, regardless of gender, the presence of , -238 (rs361525) GA/AA, (rs2275913) AA/GA, and (rs763780) genotypes was associated with PsA.

CONCLUSION

In this Brazilian population, and gene polymorphisms responsible for the expression of important inflammatory cytokines were associated with overall SpA, and, specifically, with AS and PsA, regardless of gender and . However, future larger studies with different ethnicities may be necessary to confirm these genetic associations.