Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cell arteritis.
OBJECTIVE
To assess the influence of the IL2RA rs2104286 A>G polymorphism on susceptibility to and clinical spectrum of manifestations of biopsy-proven giant cell arteritis (GCA).


METHODS
Our study included 318 patients with biopsy-proven GCA. DNA from patients and healthy controls was obtained from peripheral blood. Samples were genotyped for the IL2RA rs2104286 A>G polymorphism using a predesigned TaqMan allele discrimination assay and by PCR amplification.


RESULTS
Although GCA patients showed a higher frequency of the minor allele homozygote of IL2RA rs2104286 (GG) compared to controls (5.1% vs 2.8%, respectively; p = 0.06, odds ratio 1.84, 95% confidence interval 0.91-3.70), the allele distribution showed no significant differences between GCA patients and controls. Stratification of GCA patients according to sex or polymyalgia rheumatica, jaw claudication, visual ischemic manifestations, or other severe ischemic complications did not yield significant differences in the allele or genotype frequencies of the IL2RA rs2104286 polymorphism.


CONCLUSIONS
IL2RA rs2104286 polymorphism does not appear to be a genetic risk factor for susceptibility to biopsy-proven GCA. Also, this polymorphism does not seem to be implicated in the clinical expression of this vasculitis.
Rodríguez-Rodríguez
Luis
L
Instituto de Parasitología y Biomedicina López-Neyra, C.S.I.C., Granada, Spain.
Castañeda
Santos
S
Vázquez-Rodríguez
Tomás R
TR
Morado
Inmaculada C
IC
Marí-Alfonso
Beatriz
B
Gómez-Vaquero
Carmen
C
Miranda-Filloy
José A
JA
Ortego-Centeno
Norberto
N
Narvaez
Javier
J
Blanco
Ricardo
R
Fernández-Gutiérrez
Benjamín
B
Martín
Javier
J
González-Gay
Miguel A
MA
D000483:Alleles; D016009:Chi-Square Distribution; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000235:genetics*; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics*; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012306:Risk
C508017:IL2RA protein, human; D053645:Interleukin-2 Receptor alpha Subunit