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TAP2 alleles in inflammatory arthritis
J Tuokko1, E Pushnova, U Yli-Kerttula
1Turku Immunology Centre, Department of Medical Microbiology, Turku University, Finland.
Scandinavian Journal of Rheumatology
|June 30, 1998
Summary
Genetic variations in the TAP2 gene are linked to rheumatoid arthritis (RA) and reactive arthritis (ReA). Specific TAP2 genotypes and alleles are more common in RA patients, suggesting they may be markers for inflammatory arthritis susceptibility.
Area of Science:
- Immunogenetics
- Rheumatology
- Molecular Biology
Background:
- Rheumatoid arthritis (RA) and reactive arthritis (ReA) are inflammatory joint diseases with complex genetic components.
- The Transporter Associated with Antigen Processing 2 (TAP2) gene plays a crucial role in the immune system's antigen presentation pathway.
- Previous studies suggest associations between Human Leukocyte Antigen (HLA) genes and susceptibility to these arthritic conditions.
Purpose of the Study:
- To investigate the association between TAP2 gene polymorphisms and susceptibility to RA and ReA.
- To explore potential links between TAP2 gene variations, HLA antigens, and specific patient subgroups.
- To determine if TAP2 polymorphisms can serve as additional markers for inflammatory arthritis.
Main Methods:
- Genotyping for HLA-B27, HLA-DR, and HLA-DQ antigens in 100 arthritis patients (40 RA, 60 ReA) and 60 healthy controls.
- Analysis of TAP2 gene polymorphisms at positions 379, 565, 665, 687 (using amplification refractory system-based PCR) and 386, 651 (using oligonucleotide hybridization).
- Statistical analysis to compare genotype and allele frequencies between patient groups and controls.
Main Results:
- The TAP2A/A genotype was significantly more frequent in RA patients (30%) compared to controls (13%), particularly in those positive for DRB1*04.
- Specific TAP2 dimorphisms (Thr/Thr at position 665 and Stop/Stop at position 687) were increased in RA patients.
- TAP2J positivity was associated with the HLA-B27-DRB1*04-DQB1*0301 haplotype in ReA patients, suggesting a link to this specific haplotype.
Conclusions:
- TAP2 gene polymorphisms are associated with specific subgroups of RA and ReA.
- The findings suggest that TAP2A in DRB1*04 positive RA and TAP2J in HLA-B27-DRB1*04-DQB1*0301 positive ReA may act as susceptibility markers.
- TAP2 gene variations could serve as additional genetic markers for susceptibility to inflammatory arthritis, particularly when considered with established HLA associations.