Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population
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Published on: May 16, 2025
Cai Lei1, Zhang Dongqing, Shi Yeqing
1State Key Lab of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai, PR China.
Insights
Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) gene variations, specifically at the +49 and CT60 sites, are linked to rheumatoid arthritis (RA) susceptibility in the Chinese Han population. A meta-analysis confirmed this association across diverse populations.
Area of Science:
- Immunogenetics
- Rheumatology
- Human Genetics
Background:
- Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) plays a crucial role in regulating T-cell activation.
- Polymorphisms within the CTLA-4 gene have been proposed as potential risk factors for rheumatoid arthritis (RA).
- Prior research on the association between CTLA-4 +49 polymorphism and RA has yielded inconsistent findings.
Purpose of the Study:
- To investigate the association between CTLA-4 gene polymorphisms and RA risk in the Chinese Han population.
- To clarify the role of CTLA-4 gene variants in RA pathogenesis through genotyping and meta-analysis.
Main Methods:
- Genotyping of four CTLA-4 single nucleotide polymorphisms (SNPs): MH30, +49, CT60, and JO31, using denaturing gradient gel electrophoresis (DGGE).
- Study included 326 RA patients and 250 healthy controls from the Chinese Han population.
- Meta-analysis of existing studies on the CTLA-4 +49 polymorphism and RA risk was conducted.
Main Results:
- Significant differences in genotype frequencies for CTLA-4 +49 and CT60 were observed between RA patients and healthy controls (P=0.028 and P=0.007, respectively).
- Haplotype analysis of the two SNPs revealed significant differences between cases and controls (chi(2)=10.58, P=0.014).
- Meta-analysis indicated that the CTLA-4 +49 G allele is associated with RA risk in both European and Asian populations.
Conclusions:
- The CTLA-4 gene is implicated in rheumatoid arthritis susceptibility within the Chinese Han population.
- +49 and CT60 polymorphisms of the CTLA-4 gene are suggested as potential causal variants contributing to RA disease.
Abstract:
Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is important for downregulation of T-cell activation, and CTLA-4 gene polymorphisms have been implicated as risk factors for rheumatoid arthritis (RA). Previous studies of the association between the +49 polymorphism of the CTLA-4 gene in RA have provided conflicting results. In order to determine association of the CTLA-4 gene with RA in Chinese Han population, we used denaturing gradient gel electrophoresis (DGGE) to genotype polymorphisms of four SNPs (MH30, +49, CT60 and JO31) of the CTLA-4 gene in 326 RA patients and 250 healthy controls. Furthermore, meta-analysis of all available studies relating +49 polymorphism to the risk of RA was performed to confirm the disease association. Among the SNPs examined, the genotype frequencies of CTLA-4 +49 and CT60 in RA patients differed significantly from controls (P=0.028 and 0.007). In addition, the distribution of four haplotypes constructed by these two SNPs was significantly different between patients and controls (chi(2)=10.58, d.f. =3, P=0.014). The meta-analysis also revealed that in both European and Asian populations, the CLTA-4 +49 G allele was associated with the risk of RA. These results suggested that the CTLA-4 gene might be involved in the susceptibility to RA in the Chinese Han population and both +49 and CT60 of CTLA-4 gene might be the causal variants in RA disease.
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