CARD15 polymorphism in abdominal aortic aneurysm (AAA)

• Published in: Genes and immunity Vol. 6; p. S33
• Main Authors: Ocana, E, Bohorquez, J C, Brieva, JA, Nieto, A
• Format: Journal Article
• Language: English
• Published: 01.04.2005
• ISSN: 1466-4879

Chronic transmural inflammation is one of the principal histologic features of established AAAs and accumulating evidence suggests that infectious agents, particularly CMV and C. Pneumoniae, may play a role in its pathogenesis. On the other hand, genetic factors are likely to be involved in susceptibility to the common forms of aneurysm, as suggested by the familial aggregation of AAA, and evidenced by association and genome scan studies. CARD15 codes for an intracellular sensor of pathogen-associated molecular patterns (NOD2) and plays a role in Crohn's disease and probably in other inflammatory conditions. In this work CARD15 polymorphisms were analyzed by PCR-RFLP (P268S, G908R, L1007fs) and PCR-SSP (R702W) in 74 AAA patients and 145 healthy controls from the same referral area. The allele and genotype frequencies in controls were similar to those previously reported in Spanish population. No significant differences were observed between patients and controls for P268S, G908R and L1007fs allele and genotype distributions. However, the 702W allele was significantly increased in AAA patients (11.4% vs 5.8%; P=0.03) corresponding with an increased prevalence of the heterozygote R/W genotype in this group (23% vs 12%; P=0.03; OR=2.25, 1.01-5.02 95% CI). No correlation was found with any of the clinical characteristics analyzed (age, smoking, symptomatology, aortic diameter, occlusive arterial disease, and degree of inflammation, calcification and neovascularization). These results suggest that CARD15 polymorphism is involved in genetic predisposition to AAA.