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: Jing Zhu, Dinging Zhang, Fengxia Wu, Fei He, Xiaoqi Liu, Lijun Wu, Bin Zhou, Jianping Liu, Fang Lu, Jian Liu, Ruijun Luo, Wubin Long, Minghui Yang, Shi Ma, Xiaodan Wu, Yi Shi, Tong Wu, Ying Lin, Jiyun Yang, Guohua Yuan, Zhenglin Yang
• Journal: BMC medical genetics (BMC Med Genet) Vol. 12 Pg. 53 (Apr 14 2011) ISSN: 1471-2350 [Electronic] England
• PMID: 21492465 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antibodies
• Complement C5
• Peptides, Cyclic
• TNF Receptor-Associated Factor 1
• cyclic citrullinated peptide
• Rheumatoid Factor
• PTPN22 protein, human
• Protein Tyrosine Phosphatase, Non-Receptor Type 22

Topics

• Aged
• Alleles
• Antibodies (blood)
• Arthritis, Rheumatoid (genetics)
• Asian People (genetics)
• China
• Cohort Studies
• Complement C5 (genetics)
• Female
• Genetic Loci
• Genome-Wide Association Study
• Genotype
• Humans
• Male
• Middle Aged
• Odds Ratio
• Peptides, Cyclic (immunology)
• Polymorphism, Single Nucleotide
• Protein Tyrosine Phosphatase, Non-Receptor Type 22 (genetics)
• Rheumatoid Factor (immunology)
• TNF Receptor-Associated Factor 1 (genetics)