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Genetic Association Between BTN3A1 Polymorphisms and the Risk of Rheumatoid Arthritis in a Chinese Population
Qingxue Shu1, Anfang Huang1, Chengsong He1
1Department of Rheumatology and Immunology, The Affiliated Hospital, Southwest Medical University, Luzhou, Sichuan, China.
International Journal of Rheumatic Diseases
|August 5, 2026
Summary
Genetic variations in the BTN3A1 gene are linked to rheumatoid arthritis (RA) risk. Specific BTN3A1 polymorphisms influence RA susceptibility and disease characteristics, indicating potential therapeutic targets.
Area of Science:
- Immunogenetics
- Rheumatology
Background:
- The butyrophilin subfamily member 3A1 (BTN3A1) gene is implicated in autoimmune diseases like systemic lupus erythematosus (SLE) and psoriasis.
- Its specific role in rheumatoid arthritis (RA) pathogenesis and association with RA susceptibility via genetic polymorphisms remains largely uncharacterized.
Purpose of the Study:
- To investigate the association between specific BTN3A1 gene polymorphisms and the risk of developing rheumatoid arthritis (RA).
- To explore the correlation of these BTN3A1 polymorphisms with clinical and laboratory features in RA patients.
Main Methods:
- A case-control study involving 390 participants (RA patients and healthy controls) matched for age and sex.
- Genotyping of five key BTN3A1 polymorphisms (rs1796520, rs3857550, rs3208733, rs6912853, rs10456045) using collected demographic, clinical, and laboratory data.
- Statistical analysis of allele and genotype frequencies to determine associations with RA risk and disease characteristics.
Main Results:
- Significant differences in genotype and allele frequencies for BTN3A1 polymorphisms rs3208733, rs6912853, and rs10456045 were observed between RA patients and controls.
- Specific genotypes of rs1796520 were associated with antinuclear antibody (ANA) and anti-Rib positivity.
- RA patients with certain BTN3A1 genotypes (rs1796520 CC+TC, rs6912853 CC+TC) exhibited distinct clinical presentations, including fewer joint issues and altered levels of inflammatory markers like IL-12p70, IFN-α, and CRP.
Conclusions:
- BTN3A1 gene polymorphisms are significantly associated with rheumatoid arthritis (RA) risk.
- These findings highlight the potential of BTN3A1 as a genetic factor influencing RA susceptibility and disease phenotype.
- The study suggests BTN3A1 as a potential target for future therapeutic interventions in RA management.
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