2076 The Journal of Rheumatology 2010; 37:10; doi:10.3899/jrheum.100362 Personal non-commercial use only. The Journal of Rheumatology Copyright © 2010. All rights reserved. Influence of CD40 rs1883832 Polymorphism in Susceptibility to and Clinical Manifestations of Biopsy-proven Giant Cell Arteritis LUIS RODRÍGUEZ-RODRÍGUEZ, SANTOS CASTAÑEDA, TOMÁS R. VÁZQUEZ-RODRÍGUEZ, INMACULADAC. MORADO, BEATRIZ MARÍ-ALFONSO, CARMEN GÓMEZ-VAQUERO, JOSÉ A. MIRANDA-FILLOY, JAVIER NARVAEZ, NORBERTO ORTEGO-CENTENO, RICARDO BLANCO, BENJAMÍN FERNÁNDEZ-GUTIÉRREZ, JAVIER MARTÍN, and MIGUELA. GONZÁLEZ-GAY ABSTRACT. Objective. To assess the potential association between CD40 rs1883832 polymorphism and biop- sy-proven giant cell arteritis (GCA). We also studied the influence of the polymorphism on pheno- typic 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 discrim- ination assay and by polymerase chain reaction amplification. Results. Patients with GCA showed a trend toward a higher frequency of the minor allele homozy- gote 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). Conclusion. 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. (First Release August 1 2010; J Rheumatol 2010;37:2076–80; doi:10.3899/jrheum.100362) Key Indexing Terms: GIANT CELL ARTERITIS TEMPORAL ARTERY BIOPSY GENETICS CD40 GENE POLYMORPHISM RS1883832 VISUAL ISCHEMIC MANIFESTATIONS From the Instituto de Parasitología y Biomedicina López-Neyra, CSIC and the Department of Internal Medicine, Hospital Clínico San Cecílio, Granada; Department of Rheumatology, Hospital Clinico San Carlos and the Department of Rheumatology, Hospital de la Princesa, Madrid; Department of Rheumatology, Hospital Xeral-Calde, Lugo; Department of Internal Medicine, Corporació Sanitaria Parc Taulí, Instituto Universitario Parc Taulí, UAB, Sabadell; Department of Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L’Hospitalet de Llobregat, Barcelona; and Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain. Supported by 2 grants from Fondo de Investigaciones Sanitarias PI06-0024 and PS09/00748 (Spain); and partially supported by RETICS Program, RD08/0075 (RIER) from Instituto de Salud Carlos III. L. Rodríguez-Rodríguez, MD, Instituto de Parasitología y Biomedicina López-Neyra, CSIC, and Department of Rheumatology, Hospital Clinico San Carlos; S. Castañeda, MD, PhD, Department of Rheumatology, Hospital de la Princesa; T.R. Vázquez-Rodríguez, MD; J.A. Miranda-Filloy, MD, Department of Rheumatology, Hospital Xeral-Calde; I.C. Morado, MD; B. Fernández-Gutiérrez, MD, PhD, Department of Rheumatology, Hospital Clinico San Carlos; B. Marí-Alfonso, MD, Department of Internal Medicine, Corporació Sanitaria Parc Taulí, Instituto Universitario Parc Taulí, UAB; C. Gómez-Vaquero, MD, PhD; J. Narvaez, MD, PhD, Department of Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L’Hospitalet de Llobregat; N. Ortego-Centeno, MD, PhD, Department of Internal Medicine, Hospital Clínico San Cecílio; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina López-Neyra, CSIC; R. Blanco, MD, PhD; M.A. González-Gay, MD, PhD, Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV. Dr. González-Gay and Dr. Martín shared authorship in this study. Address correspondence to Dr. M.A. González-Gay, Rheumatology Service, Hospital Universitario Marqués de Valdecilla, IFIMAV, Avda. de Valdecilla, s/n, 39008 Santander, Spain. E-mail: miguelaggay@hotmail.com Accepted for publication May 4, 2010. Giant cell arteritis (GCA) is the most common type of sys- temic vasculitis in Western countries in individuals over age 50 1,2 . The immune attack, affecting medium-size and large arteries, leads to damage of the wall structures and to rapid concentric hyperplasia of the intima, followed by luminal occlusion 3,4 . Clinical manifestations reflect end-organ ischemia, including blindness, jaw claudication, or stroke. GCA is a complex polygenic disease 5 . Various gene polymor- phisms have been associated with either disease susceptibili- ty 5,6,7 or a higher risk of severe ischemic complications 8,9 . www.jrheum.org Downloaded on November 12, 2021 from