Lack of association between TRAF1/C5 gene polymorphisms and biopsy-proven giant cell arteritis.
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.


CONCLUSIONS
Our results showed no influence of rs10818488 and rs2900180 TRAF1/C5 gene polymorphisms in susceptibility to and clinical expression of GCA.
Torres
Orlando
O
Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Cientificas, Granada, Spain.
Palomino-Morales
Rogelio
R
Vazquez-Rodriguez
Tomas R
TR
Castañeda
Santos
S
Morado
Inmaculada C
IC
Miranda-Filloy
Jose A
JA
Ortego-Centeno
Norberto
N
Gonzalez-Alvaro
Isidoro
I
Fernandez-Gutierrez
Benjamin
B
Martin
Javier
J
Gonzalez-Gay
Miguel A
MA
D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D003182:Complement C5 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics*
D003182:Complement C5; D047990:TNF Receptor-Associated Factor 1