%0 Journal Article
%T Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population
%A Jing Zhu
%A Dinging Zhang
%A Fengxia Wu
%A Fei He
%A Xiaoqi Liu
%A Lijun Wu
%A Bin Zhou
%A Jianping Liu
%A Fang Lu
%A Jian Liu
%A Ruijun Luo
%A Wubin Long
%A Minghui Yang
%A Shi Ma
%A Xiaodan Wu
%A Yi Shi
%A Tong Wu
%A Ying Lin
%A Jiyun Yang
%A Guohua Yuan
%A Zhenglin Yang
%J BMC Medical Genetics
%D 2011
%I BioMed Central
%R 10.1186/1471-2350-12-53
%X Significant differences in SNPs rs3761847 and rs7021206 at TRAF1/C5 were observed between the case and control groups in this cohort; the allelic p-value was 0.0018 with an odds ratio of 1.28 for rs3761847 and 0.005 with an odds ratio of 1.27 for rs7021206. This significant association between rs3761847 and RA was independent of the concentrations of anti-CCP and RF. No polymorphism of rs2476601 was observed in this cohort.We first demonstrated that genetic variants at the TRAF1/C5 locus are significantly associated with RA in Han Chinese, suggesting that TRAF1/C5 may play a role in the development of RA in this population, which expands the pathogenesis role of TRAF1/C5 in a different ethnicity.Rheumatoid arthritis (RA) is a chronic inflammatory disease that affects about 1% of the adult Caucasian population and 0.37% of the Chinese population. Women are affected three times more often than men [1-3]. This disease may affect many tissues and organs; it particularly destroys synovial joints involving autoimmune features [2]. The disease can cause severe disability and even early mortality.Although the full etiology of RA remains unclear, it is considered a complex disease caused by the interaction of genetic variants, the environment, infectious and hormonal factors [4]. The genetic variants may contribute 50-60% of the etiology of RA [5]. At least 31 RA risk loci have been confirmed associated with RA in different populations [6-14]. At TRAF1/C5 locus, both TRAF1 and C5 are possible RA-causing genes due to their biological functions. TNF is a critical cytokine in the pathogenesis of RA [15]. TRAF1 and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. TNF antagonists are an effective treatment for rheumatoid arthritis [15-17].
%K rheumatoid arthritis
%K genetics
%K TRAF1/C5
%K association study
%K Chinese
%U http://www.biomedcentral.com/1471-2350/12/53