title: Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population.
abstract: BACKGROUND
  Genetic variants in TRAF1C5 and PTPN22 genes have been shown to be significantly associated with arthritis rheumatoid in Caucasian populations. This study investigated the association between single nucleotide polymorphisms (SNPs) in TRAF1/C5 and PTPN22 genes and rheumatoid arthritis (RA) in a Han Chinese population. We genotyped SNPs rs3761847 and rs7021206 at the TRAF1/C5 locus and rs2476601 SNP in the PTPN22 gene in a Han Chinese cohort composed of 576 patients with RA and 689 controls. The concentrations of anti-cyclic citrullinated peptide antibodies (CCP) and rheumatoid factor (RF) were determined for all affected patients. The difference between the cases and the controls was compared using χ2 analysis.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Rheumatology and Immunology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhu
authors.forename: Dinging
authors.initials: D
authors.lastname: Zhang
authors.forename: Fengxia
authors.initials: F
authors.lastname: Wu
authors.forename: Fei
authors.initials: F
authors.lastname: He
authors.forename: Xiaoqi
authors.initials: X
authors.lastname: Liu
authors.forename: Lijun
authors.initials: L
authors.lastname: Wu
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
authors.forename: Jianping
authors.initials: J
authors.lastname: Liu
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
authors.forename: Jian
authors.initials: J
authors.lastname: Liu
authors.forename: Ruijun
authors.initials: R
authors.lastname: Luo
authors.forename: Wubin
authors.initials: W
authors.lastname: Long
authors.forename: Minghui
authors.initials: M
authors.lastname: Yang
authors.forename: Shi
authors.initials: S
authors.lastname: Ma
authors.forename: Xiaodan
authors.initials: X
authors.lastname: Wu
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.forename: Tong
authors.initials: T
authors.lastname: Wu
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.forename: Jiyun
authors.initials: J
authors.lastname: Yang
authors.forename: Guohua
authors.initials: G
authors.lastname: Yuan
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
mesh_terms: D000368:Aged; D000483:Alleles; D000906:Antibodies / Q000097:blood; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China; D015331:Cohort Studies; D003182:Complement C5 / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010456:Peptides, Cyclic / Q000276:immunology; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics; D012217:Rheumatoid Factor / Q000276:immunology; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics*
chemical_list: D000906:Antibodies; D003182:Complement C5; D010456:Peptides, Cyclic; D047990:TNF Receptor-Associated Factor 1; C487763:cyclic citrullinated peptide; D012217:Rheumatoid Factor; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22