Objectives T-cell activation RhoGTPase activating protein (TAGAP) has recently been reported among genetic factors implicated in rheumatoid arthritis (RA) susceptibility. Up today, three polymorphisms at 6q25 locus, where TAGAP gene is mapped, have been associated with RA liability in patients of European descent: rs394581, rs212389, and rs182429. According to a recent study, in which a comprehensive imputation of CEU HapMap single-nucleotide polymorphisms was conducted in a genome-wide association study, the polymorphism rs212389 is the best predictor of TAGAP locus in RA predisposition at least in patients of European descent. In the present study, this polymorphism was genotyped, for first time, in RA samples as to validate the suggested association, while the genotypic analysis was extended to polymorphisms rs394581 and rs182429 in order to refine again the causative RA risk variant.
Methods One hundred thirty five patients and 147 controls subjects were enrolled in the study. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) coupled with sequencing analysis was used as the screening method for TAGAP variants.
Results Statistical significant difference was observed in rs212389 alleles’ distribution between RA patients and controls (p = 0.018, OR = 0.646, 95%CI: 0.449-0.930). No statistical significant difference was revealed in distribution of variants rs394581 and rs182429 between the studied groups.
Conclusions Our results confirm that the polymorphism rs212389 confers the risk to RA liability in Europeans. However, more studies in larger groups of patients and controls and of multiple origins are needed as to confirm and increase the power of the suggested association.
Disclosure of Interest None Declared