Abstract
Objective. Our aim was to investigate whether two ERAP2 single nucleotide polymorphisms (rs2910686 and rs2248374) influence spondyloarthritis (SpA) susceptibility in Romanians. Methods. The case control study included 139 controls and 192 SpA patients. The two polymorphisms were genotyped by real time polymerase chain reaction (RT-PCR). The association tests for allele, genotype and haplotype frequencies for each polymorphism were performed with PLINK 1.9. Results. The genotypes and allele frequencies of the two SNPs in general SpA group vs. controls showed no association except for a possible marginal one for the minor allele A of rs2248374 (p = 0.08). In HLA-B27 negative SpA cohort the minor allele (A) frequency (55.4%) of SNP rs2248374 was significantly higher than the one in HLA-B27 controls (44.5%) (p = 0.012). HLA-B27 negative carriers of minor allele A present a higher risk of developing SpA (p = 0.015). Also for the second ERAP2 gene variant investigated (rs2910686) the minor allele T frequency was significantly higher (46.5%) in HLA-B27 negative SPA patients when compared with HLA-B27 negative controls (36%) (p = 0.02). The haplotype of the minor alleles (AC) is a risk factor for HLA-B27 negative SpA (p = 0.019), while the haplotype of the major alleles (GT) is a protective one against the disease in HLA-B27 negative cohorts (p = 0.009). Conclusions. Both ERAP2 gene polymorphisms investigated, especially rs2248374, influence SpA susceptibility, but this influence is limited only to the HLA-B27 negative individuals.
Highlights
Seronegative spondyloarthropathies or spondyloarthritides are related inflammatory rheumatic diseases with a complex etiopathogeny which in recent years has started to be elucidated, as increasingly more and more genetic association studies have identified new possible candidate genes responsible for influencing disease susceptibility
SpA comprise a central core consisting of ankylosing spondylitis (AS) and psoriatic arthritis (PsA), to which reactive arthritis, arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthritis (USpA) are added [1]
ERAP2 polymorphisms were investigated in patients with AS [27], Crohn’s disease [50] or anterior acute uveitis [54] we have not find any PubMed indexed international studies analysing the ERAP2 gene’s relationship with SpA in general
Summary
Seronegative spondyloarthropathies or spondyloarthritides are related inflammatory rheumatic diseases with a complex etiopathogeny which in recent years has started to be elucidated, as increasingly more and more genetic association studies have identified new possible candidate genes responsible for influencing disease susceptibility. SpA comprise a central core consisting of ankylosing spondylitis (AS) and psoriatic arthritis (PsA), to which reactive arthritis, arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthritis (USpA) are added [1]. Acute anterior uveitis is classified by some authors among SpA, mainly because about 40% of patients with uveitis present undiagnosed spondyloarthritis [3,4]. The most emblematic genetic attribute of SpA is the association with HLA-B27 [5,6]. On average 80% of the axial SpA are HLA-B27 positive
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