Common polymorphisms of Fibulin-5 and the risk of abdominal aortic aneurysm development

Abstract

Fibulin-5 is a crucial protein in the connective tissue structure of the aortic wall. The purpose of this study was to determine if genetic variation within the Fibulin-5 gene was associated with abdominal aortic aneurysms (AAA). AAA patients, with disease-free controls, were recruited and a past medical history questionnaire completed. Three single nucleotide polymorphisms (SNPs) in the FBLN5 gene (rs2498834, rs2430366 and rs2254320) were genotyped. The two cohorts were compared and haplotype analysis performed. A total of 230 AAA cases and 278 controls were successfully genotyped. The mean age was 71.9 years (± 6.8). No difference between cases and controls was found in the distribution of alleles of FBLN5 SNPs rs2498834 (p = 0.47), rs2430366 (p = 0.45) or rs2254320 (p = 0.46). Haplotype analysis did not reveal any significant difference. In conclusion, genetic variation within FBLN5 is unlikely to play any role in the development of AAA.