Han Population Rheumatoid Arthriti And Suppressor Of Cytokine Signaling3 Research

BACKGROUNDSuppressor of cytokine signaling (SOCS)-3 is a key negative regulator of cytokine signaling that inhibits the JAK/STAT signal transduction pathway; there are reports describing its role in attenuating arthritis through SOCS3 overexpression. We examined the relationship between polymorphisms in the coding sequence and promoter region of SOCS3 and rheumatoid arthritis (RA) in a Chinese Han population. Two single-nucleotide polymorphisms in the SOCS3 5'region:-1044 C>A within the promoter region and rs12953258 (-920 C>A) in the 5'UTR (exon 2) of SOCS3 were studied by restriction fragment length polymorphism analysis and tetra-ARMS-PCR in 100 RA patients and 100 healthy adults. The prevalence of the homozygous genotype-1044 CC was 100% in both RA and control groups. The heterozygous genotype (-920 C>A) was present in 89% of RA and in 82% of the control group, which is significantly different from the distribution in Western people. There was no transmission disequilibrium between these two SNPs (r2=0.000). We did not detect significant differences in allele or genotype frequencies for either of these SNPs between the RA group and controls (P>0.05). There was no association between rheumatoid factor and SOCS3 SNP rs12953258 (P-0.258). We conclude that SOCS3 polymorphism is not a genetic risk factor for RA in Chinese patients.OBJECTIVE:Detect the prevalence of homozygous genotype-1044 CC and-920 C>A in both RA and control group.METHODSTwo single nucleotide polymorphisms (SNPs) in the SOCS3 5'region:-1044 C>A within the promoter region and rsl2953258 (-920 C>A) in the 5'UTR (exon2) of SOCS3 were studied by restricted fragment length polymorphism analysis (RFLP) and tetra-ARMS-PCR in 100 RA patients and 100 healthy adults. Differences in haplotype and genotype frequencies between RA group and control group were analysised by SHEsis software. Association of SCOS-3 SNPs with RA was tested in these two groups using SPSS10.0. RESULTSThe prevalence of homozygous genotype-1044 CC was 100%(100/100) in both RA and control group. Heterozygous genotype (-920 C>A) was present in 89%(89/100) of RA and in 82%(82/100) of controls group (p=0.188) which was significantly different with the distribution in West people. There was no transmission disequilibrium (r2=0.000) between these two SNPs.CONCLUSION:We did not detect significant differences in allele or genotype frequencies for either of these SNPs between the RA group and controls (P>0.05). There was no association between rheumatoid factor and SOCS3 SNP rs12953258 (P=0.258). We conclude that SOCS3 polymorphism is not a genetic risk factor for RA in Chinese patients. The results do not suggest evidence for a major role of the respective SNPs in SOCS3 in the pathogenesis of RA in Chinese population.