title: Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis.
abstract: OBJECTIVE
  To assess the potential association between the rs1343151 IL23R and the rs3790567 IL12RB2 polymorphisms and giant cell arteritis (GCA). We also studied whether these polymorphisms might influence the phenotypic expression of GCA.
  
  
  METHODS
  In total, 357 Spanish patients with biopsy-proven GCA and 574 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the rs1343151 IL23R and the rs3790567 IL12RB2 polymorphisms using a predesigned TaqMan allele discrimination assay and by polymerase chain reaction amplification.
  
  
  RESULTS
  Regarding the rs1343151 IL23R polymorphism, no significant differences in the genotype or allele frequencies between GCA patients and healthy controls were observed. The frequency of the minor allele A of the rs3790567 IL12RB2 variant was increased in GCA patients compared with controls (30.1% vs 25.7%, respectively; p = 0.039, OR 1.25, 95% CI 1.01-1.54). An increased frequency of subjects carrying the minor allele A (GA+AA genotypes) of the rs3790567 IL12RB2 polymorphism was found among GCA patients compared with controls (52.8% vs 44.4%; p = 0.013, OR 1.40, 95% CI 1.06-1.85). Although a higher frequency of the combination of minor alleles (A-A) in the subgroup of patients with visual ischemic complications compared with the combination of both major alleles (G-G; p = 0.029) or with the other allelic combinations (p = 0.035) was found, logistic regression analysis showed that this association was no longer significant after adjustment for potential confounding factors (A-A vs G-G: OR 2.10, 95% CI 0.88-5.04, p = 0.096).
  
  
  CONCLUSIONS
  Our results support a potential influence of the rs3790567 IL12RB2 polymorphism in the pathogenesis of GCA.
authors.affiliation: Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IFIMAV Avenida de Valdecilla, s/n, Santander, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Rodríguez-Rodríguez
authors.forename: Francisco D
authors.initials: FD
authors.lastname: Carmona
authors.forename: Santos
authors.initials: S
authors.lastname: Castañeda
authors.forename: José A
authors.initials: JA
authors.lastname: Miranda-Filloy
authors.forename: Inmaculada C
authors.initials: IC
authors.lastname: Morado
authors.forename: Javier
authors.initials: J
authors.lastname: Narváez
authors.forename: Beatriz
authors.initials: B
authors.lastname: Marí-Alfonso
authors.forename: Carmen
authors.initials: C
authors.lastname: Gómez-Vaquero
authors.forename: Encarnación
authors.initials: E
authors.lastname: Amigo-Díaz
authors.forename: Raquel
authors.initials: R
authors.lastname: Ríos-Fernández
authors.forename: Ricardo
authors.initials: R
authors.lastname: Blanco
authors.forename: Javier
authors.initials: J
authors.lastname: Llorca
authors.forename: Benjamín
authors.initials: B
authors.lastname: Fernández-Gutiérrez
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
authors.forename: Miguel A
authors.initials: MA
authors.lastname: González-Gay
mesh_terms: D000368:Aged; D001706:Biopsy; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018123:Receptors, Interleukin / Q000235:genetics*; D053707:Receptors, Interleukin-12 / Q000235:genetics*
chemical_list: C508439:IL12RB2 protein, human; C515500:IL23R protein, human; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12