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Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population
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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