Influence of CD40 rs1883832 polymorphism in susceptibility to and clinical manifestations of biopsy-proven giant cell arteritis

• Published in: Journal of rheumatology Vol. 37; no. 10; p. 2076
• Main Authors: Rodríguez-Rodríguez, Luis, Castañeda, Santos, Vázquez-Rodríguez, Tomás R, Morado, Inmaculada C, Marí-Alfonso, Beatriz, Gómez-Vaquero, Carmen, Miranda-Filloy, José A, Narvaez, Javier, Ortego-Centeno, Norberto, Blanco, Ricardo, Fernández-Gutiérrez, Benjamín, Martín, Javier, González-Gay, Miguel A
• Format: Journal Article
• Language: English
• Published: Canada 01.10.2010
• Subjects: Aged; Alleles; Biopsy; CD40 Antigens - genetics; Female; Genetic Predisposition to Disease; Genotype; Giant Cell Arteritis - genetics; Giant Cell Arteritis - pathology; Giant Cell Arteritis - physiopathology; Homozygote; Humans; Ischemia - genetics; Ischemia - pathology; Ischemia - physiopathology; Male; Polymorphism, Genetic; Spain
• ISSN: 0315-162X
• DOI: 10.3899/jrheum.100362

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. 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. 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). 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.