title: Influence of CD40 rs1883832 polymorphism in susceptibility to and clinical manifestations of biopsy-proven giant cell arteritis.
abstract: OBJECTIVE
  To assess the potential association between CD40 rs1883832 polymorphism and biopsy-proven giant cell arteritis (GCA). We also studied the influence of the polymorphism on phenotypic expression of this vasculitis, in particular the development of visual ischemic manifestations.
  
  
  METHODS
  Three hundred five Spanish patients with biopsy-proven GCA and 788 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the CD40 rs1883832 C/T polymorphism using a predesigned TaqMan allele discrimination assay and by polymerase chain reaction amplification.
  
  
  RESULTS
  Patients with GCA showed a trend toward a higher frequency of the minor allele homozygote of rs1883832 (TT) compared to healthy controls (12.1% vs 8.3%, respectively; p = 0.05, OR 1.54, 95% CI 0.98-2.40). Also, a marginally significant increased frequency of the minor allele T was observed in patients with GCA who had visual ischemic manifestations (36.9%) compared to those without visual ischemic manifestations (27.7%; p = 0.04, OR 1.53, 95% CI 0.99-2.34). In this regard, patients with GCA carrying the minor allele T (either TT or TC) experienced visual ischemic manifestations more commonly than those carrying the CC genotype (58.5% vs 44.2%; p = 0.04, OR 1.78, 95% CI 0.99-3.22).
  
  
  CONCLUSIONS
  Our results suggest a potential implication of the CD40 rs1883832 C/T polymorphism in susceptibility to visual ischemic manifestations in individuals with biopsy-proven GCA.
authors.affiliation: Instituto de Parasitología y Biomedicina López-Neyra, CSIC and Department of Internal Medicine, Hospital Clínico San Cecílio, Granada, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Rodríguez-Rodríguez
authors.forename: Santos
authors.initials: S
authors.lastname: Castañeda
authors.forename: Tomás R
authors.initials: TR
authors.lastname: Vázquez-Rodríguez
authors.forename: Inmaculada C
authors.initials: IC
authors.lastname: Morado
authors.forename: Beatriz
authors.initials: B
authors.lastname: Marí-Alfonso
authors.forename: Carmen
authors.initials: C
authors.lastname: Gómez-Vaquero
authors.forename: José A
authors.initials: JA
authors.lastname: Miranda-Filloy
authors.forename: Javier
authors.initials: J
authors.lastname: Narvaez
authors.forename: Norberto
authors.initials: N
authors.lastname: Ortego-Centeno
authors.forename: Ricardo
authors.initials: R
authors.lastname: Blanco
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; D000483:Alleles; D001706:Biopsy; D019013:CD40 Antigens / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D007511:Ischemia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008297:Male; D011110:Polymorphism, Genetic; D013030:Spain
chemical_list: D019013:CD40 Antigens