Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

• Published in: Nature Genetics
• Main Authors: Pola, Roberto, Gaetani, Eleonora
• Format: Article in Journal/Newspaper
• Language: English
• Published: Nature Publishing Group 2010
• Subjects: GWAS; abdominal aortic aneurysm; Settore MED/09 - MEDICINA INTERNA; Settore MED/03 - GENETICA MEDICA; Settore MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE; Iceland
• Online Access: http://hdl.handle.net/10807/3181; https://doi.org/10.1038/ng.622

We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A allele of rs7025486 on 9q33 was found to associate with AAA, with an odds ratio (OR) of 1.21 and P = 4.6 x 10(-10). In tests for association with other vascular diseases, we found that rs7025486[A] is associated with early onset myocardial infarction (OR = 1.18, P = 3.1 x 10(-5)), peripheral arterial disease (OR = 1.14, P = 3.9 x 10(-5)) and pulmonary embolism (OR = 1.20, P = 0.00030), but not with intracranial aneurysm or ischemic stroke. No association was observed between rs7025486[A] and common risk factors for arterial and venous diseases-that is, smoking, lipid levels, obesity, type 2 diabetes and hypertension. Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival.