期刊
JOURNAL OF RHEUMATOLOGY
卷 37, 期 1, 页码 131-135出版社
J RHEUMATOL PUBL CO
DOI: 10.3899/jrheum.090646
关键词
GIANT CELL ARTERITIS; DISEASE SUSCEPTIBILITY; TRAF1/C5 GENE; GENETIC STUDIES; GENE POLYMORPHISM
类别
资金
- Fondo de Investigaciones Sanitarias, Spain [PI06-0024]
- Junta de Andalucia. Grupo, Spain [CTS-180]
Objective. A novel association with a 100-kb region on chromosome 9 that contains the tumor necrosis factor receptor-associated factor 1 (TRAF1) and C5 genes has been observed in some autoimmune rheumatic diseases, in particular in rheumatoid arthritis. We analyzed the influence of 2 single-nucleotide polymorphisms (SNP) from the TRAF1/C5 region in susceptibility to giant cell arteritis (GCA). Methods. We assessed 220 patients with biopsy-proven GCA and 410 matched controls. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the rs10818488 and rs2900180 TRAF1/C5 gene polymorphisms by polymerase chain reaction, using a predesigned TaqMan allele discrimination assay. Results. A genotyping rate of 95% was achieved in this series of GCA. No significant differences in the genotype distribution between GCA patients and controls were found for the 2 SNP. GCA patients exhibited a reduced frequency of TRAF1/C5 AA homozygosity (7.6%) compared to controls (12.7%) but the difference was only marginally significant (OR 0.58, 95% CI 0.30-1.11, p = 0.07). The frequency of minor allele T of TRAF1/C5 rs2900180 was also slightly reduced in patients (24.3%) compared to controls (27.8%) (p = 0.19). No significant differences were observed when patients were stratified according to the presence of specific clinical disease features. Conclusion. Our results showed no influence of rs10818488 and rs2900180 TRAF1/C5 gene polymorphisms in susceptibility to and clinical expression of GCA. (First Release Nov 15 2009: J Rheumatol 2010:37:131-5; doi:10.3899/jrheum.090646)
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