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Melanie Dunn 9/20/2011

Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population. Melanie Dunn 9/20/2011. What is Rheumatoid Arthritis?.

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Melanie Dunn 9/20/2011

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  1. Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population Melanie Dunn 9/20/2011

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

  3. Background Information • 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.

  4. Background information • Complement activation leading to significant depletion of complement components has been shown in synovial fluid of patients with RA.

  5. Background Information • rs7021206 is located in the TRAF1 intron 3 and rs3761847 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.

  6. Methods • 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.

  7. Results • From the 576 RA patients, 363 were anti-CCP positive and 496 were RF positive. • Both rs3761847 and rs7021206 were significantly associated with RA.

  8. Results • Only 5 loci/genes have been successfully replicated in different ethnicities for RA. • rs3761847 at the TRAF1/C5 locus has been significantly associated with RA in studies all over the world.

  9. Conclusions • It was demonstrated that genetic variants rs3761847 and rs7921206 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.

  10. References • 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.

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