The association of single nucleotide polymorphisms in TNFAIP 3 with rheumatoid arthritis in the Chinese population

Objective: Genome-wide association studies of rheumatoid arthritis (RA) in Caucasian populations have identified polymorphisms in and near the tumor necrosis factor α (TNF-α)-induced protein 3 gene (TNFAIP3). This study aimed to investigate the association between the critical polymorphisms in the TNFAIP3 gene and the risk of RA in the Chinese population. Material and methods: A hospital-based case-control study of 344 RA patients and 344 matched controls was conducted. After informed consent was obtained, each person donated 2 ml of blood for biomarker testing. Three polymorphisms were determined by the TaqMan SNP genotyping method. The statistical analyses were performed primarily with SPSS (v13.0). Results: This study showed that individuals with the rs2230926 TG genotype had an increased risk of RA compared with those carrying the TT genotype (OR = 1.74, 95% CI: 1.12-2.72, p = 0.015) and the combined TG/GG genotypes were also associated with an increased risk of RA (OR = 1.75, 95% CI: 1.13-2.72, p = 0.012). Individuals carrying the rs10499194 CT heterozygous genotype had a 1.88-fold increased risk of RA compared with those with the homozygous wild genotype CC (95% CI: 1.05-3.36, p = 0.034). Subset analysis stratified to gender showed that significant associations were present in the female population, but not in the male population. Haplotype analysis showed that the T-A-C and G-G-C haplotypes were associated with increased risks of RA (ORs were 2.46 and 2.27, 95% CIs were 1.36-4.48 and 1.35-3.80, p values were 0.002 and 0.002, respectively). Conclusions: The rs10499194 and rs2230926 polymorphisms in the TNFAIP3 gene region may be genetic risk modifiers for RA in the Chinese population.