Melanie Dunn 9/20/2011.  Rheumatoid arthritis (RA) is a chronic disease that leads to inflammation of the joints and surrounding tissues that can also.

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Presentation transcript:

Melanie Dunn 9/20/2011

 Rheumatoid arthritis (RA) is a chronic disease that leads to inflammation of the joints and surrounding tissues that can also affect other organs.

 Genes may contribute 50-60% of the etiology of RA. 31 RA risk loci have been found.  At TRAF1/C5 locus, both TRAF1 and C5 are possible RA-causing genes due to biological functions.

 Complement activation leading to significant depletion of complement components has been shown in synovial fluid of patients with RA.

 rs is located in the TRAF1 intron 3 and rs is located upstream of TRAF1 and downstream of C5.  These variants at these loci may affect the expression levels of TRAF1 and C5 to lead to RA.

 576 patients with RA and 689 normal age- matched controls  The concentrations of anti-CCP antibodies and RF were obtained from sera.  SNP genotyping was performed and the Hardy-Weinberg equation for the SNP was tested with the X squared test.

 From the 576 RA patients, 363 were anti-CCP positive and 496 were RF positive.  Both rs and rs were significantly associated with RA.

 Only 5 loci/genes have been successfully replicated in different ethnicities for RA.  rs at the TRAF1/C5 locus has been significantly associated with RA in studies all over the world.

 It was demonstrated that genetic variants rs and rs in TRAF1/C5 locus are significantly associated with RA in the 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.

 Zhu, Jing, et. al: Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population. BMC Medical Genetics 2011, 12:53.