Lack of Association between Single Nucleotide Polymorphism rs10818488 in TRAF1/C5 Region and Rheumatoid Arthritis in Iranian Population
Abstract
The association of rs10818488 SNP located in TRAF1/C5 region with Rheumatoid Arthritis (RA), has been picked up by genome-wide association studies. Independent studies in different populations revealed inconsistent results. The aim of this study was to investigate the possible association of this SNP with RA in Iranian population.
A total of 362 cases and 422 healthy controls were recruited in this study. Genomic DNA was extracted from whole blood and the genotyping was performed by PCR-RFLP (Polymerase Chain Reaction– estriction Fragment Length Polymorphism). A set of genotypes was confirmed by sequencing. Genotype and allele frequencies were compared between the case and control groups.
Analysis indicated a higher frequency of A allele in cases, although the difference was not statistically significant (Chi-square=2.8, p=0.09). Comparison of genotype frequencies, revealed higher frequencies of AA and AG genotypes in case group but statistically the difference was not significant (Chi-square=2.72, p=0.25).
 These findings suggest that the rs10818488 in TRAF1/C5 region is not associated with rheumatoid arthritis in Iranian population.
1. MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J, Aho K, et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000; 43(1):30-7.
2. Davatchi F, Jamshidi A-R, Banihashemi AT, Gholami J, Forouzanfar MH, Akhlaghi M, et al. WHO-ILAR COPCORD Study (Stage 1, Urban Study) in Iran. J Rheumatol 2008; 35(7):1384.
3. Kurreeman FAS, Padyukov L, Marques RB, Schrodi SJ, Seddighzadeh M, Stoeken-Rijsbergen G, et al. A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis. PLoS Med 2007;4(9):e278.
4. Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, et al. TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med 2007; 357(12):1199-209.
5. Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, et al. Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility. Hum Mol Genet 2008; 17(15):2274-9.
6. Chang M, Rowland CM, Garcia VE, Schrodi SJ, Catanese JJ, van der Helm-van Mil AHM, et al. A large- scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2. PLoS Genet 2008;4(6):e1000107.
7. Zervou MI, Sidiropoulos P, Petraki E, Vazgiourakis V, Krasoudaki E, Raptopoulou A, et al. Association of a TRAF1 and a STAT4 gene polymorphism with increased risk for rheumatoid arthritis in a genetically homogeneous population. Hum Immunol 2008;69(9):567-71.
8. Elliott MJ, Maini RN, Feldmann M, Kalden JR, Antoni C, Smolen JS, et al. Randomised double-blind comparison of chimeric monoclonal antibody to tumour necrosis factor alpha (cA2) versus placebo in rheumatoid arthritis. Lancet 1994; 344(8930):1105-10.
9. Weinblatt ME, Kremer JM, Bankhurst AD, Bulpitt KJ, Fleischmann RM, Fox RI, et al. A trial of etanercept, a recombinant tumor necrosis factor receptor:Fc fusion protein, in patients with rheumatoid arthritis receiving methotrexate. N Engl J Med 1999; 340(4):253-9.
10. Ravetch JV, Clynes RA. Divergent roles for Fc receptors and complement in vivo. Annu Rev Immunol 1998;16:421-32.
11. Coenen MJH, Gregersen PK. Rheumatoid arthritis: a view of the current genetic landscape. Genes Immun 2009; 10(2):101-11.
12. Albers HM, Kurreeman FAS, Houwing-Duistermaat JJ, Brinkman DMC, Kamphuis SSM, Girschick HJ, et al. The TRAF1/C5 region is a risk factor for polyarthritis in juvenile idiopathic arthritis. Ann Rheum Dis 2008;67(11):1578-80.
13. Kurreeman FAS, Goulielmos GN, Alizadeh BZ, Rueda B, Houwing-Duistermaat J, Sanchez E, et al. The TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseases. Ann Rheum Dis 2010; 69(4):696-9.
14. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988; 31(3):315-24.
15. Mohamed RH, Pasha HF, El-Shahawy EE. Influence of TRAF1/C5 and STAT4 genes polymorphisms on susceptibility and severity of rheumatoid arthritis in Egyptian population. Cell Immunol 2012; 273(1):67-72.
16. Xu K, Peng H, Zhou M, Wang W, Li R, Zhu K-K, et al.Association study of TRAF1/C5 polymorphism (rs10818488) with susceptibility to rheumatoid arthritis and systemic lupus erythematosus: A meta-analysis. Gene 2013; 517(1):46-54.
17. Palomino-Morales RJ, Rojas-Villarraga A, Gonzalez CI, Ramirez G, Anaya JM, Martin J. STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians. Genes Immun 2008; 9(4):379-82.
18. Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, et al. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447(7145):661-78.
19. Nishimoto K, Kochi Y, Ikari K, Yamamoto K, Suzuki A, Shimane K, et al. Association study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese. Ann Rheum Dis 2010; 69(2):368-73.
20. Smadian E, Bidmeshkipour A, Gharaei R, Soleymani- nejadian E, Shirkavand A. Lack of association between TRAF1/C5 rs10818488 polymorphism and rheumatoid arthritis in Iranian population. Egyptian Journal of Medical Human Genetics 2013; 14(1):63-7.
| Files | ||
| Issue | Vol 13, No 1 (2014) | |
| Section | Articles | |
| Keywords | ||
| Association study C5 Rheumatoid arthritis Single nucleotide polymorphism (SNP) TRAF1 | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
