INTRODUCTION: Both genetic and environmental factors contribute to rheumatoid 
arthritis (RA), a common and complex autoimmune disease. As well as the major 
susceptibility gene HLA-DRB1, recent genome-wide and candidate-gene studies 
reported additional evidence for association of single nucleotide polymorphism 
(SNP) markers in the PTPN22, STAT4, OLIG3/TNFAIP3 and TRAF1/C5 loci with RA. 
This study was initiated to investigate the association between defined genetic 
markers and RA in a Slovak population. In contrast to recent studies, we 
included intensively-characterized osteoarthritis (OA) patients as controls.
METHODS: We used material of 520 RA and 303 OA samples in a case-control 
setting. Six SNPs were genotyped using TaqMan assays. HLA-DRB1 alleles were 
determined by employing site-specific polymerase chain reaction (PCR) 
amplification.
RESULTS: No statistically significant association of TRAF1/C5 SNPs rs3761847 and 
rs10818488 with RA was detected. However, we were able to replicate the 
association signals between RA and HLA-DRB1 alleles, STAT4 (rs7574865), PTPN22 
(rs2476601) and OLIG3/TNFAIP3 (rs10499194 and rs6920220). The strongest signal 
was detected for HLA-DRB1*04 with an allelic P = 1.2*10-13 (OR = 2.92, 95% 
confidence interval (CI) = 2.18 - 3.91). Additionally, SNPs rs7574865STAT4 (P = 
9.2*10-6; OR = 1.71, 95% CI = 1.35 - 2.18) and rs2476601PTPN22 (P = 9.5*10-4; OR 
= 1.67, 95% CI = 1.23 - 2.26) were associated with susceptibility to RA, whereas 
after permutation testing OLIG3/TNFAIP3 SNPs rs10499194 and rs6920220 missed our 
criteria for significance (Pcorr = 0.114 and Pcorr = 0.180, respectively).
CONCLUSIONS: In our Slovak population, HLA-DRB1 alleles as well as SNPs in STAT4 
and PTPN22 genes showed a strong association with RA.