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16-11-2011 | Cardiometabolic | Article

Association found between LRP1 gene and abdominal aortic aneurysm


Free abstract

MedWire News: Researchers have found an association between a common and potentially functional variant in the low-density lipoprotein receptor-related protein 1 gene (LRP1) and risk for abdominal aortic aneurysm (AAA).

The finding suggests there is a mechanism via the LRP1 pathway that contributes to AAA formation, and exploration of this mechanism could provide future therapeutic approaches to prevent the development and/or progression of AAA, report Matthew Bown (University of Leicester, UK) and team.

They conducted a genome-wide association discovery study among 1866 patients with AAA and 5435 controls, and found nine loci that demonstrated a significant association with AAA.

These loci were investigated in a replication sample of 2871 additional AAA patients and 32,687 controls. Bown et al observed that the lead single nucleotide polymorphism (SNP), rs1466535, the loci 12q13.3, located within intron 1 of LRP1, demonstrated significant association with AAA.

The association between rs1466535 and AAA was confirmed in a follow-up study of 1491 AAA patients and 11,060 controls.

Combined analysis of 6228 AAA patients and 49,182 controls revealed that the odds ratio for the association between rs1466535 and AAA was 1.15.

Of note, no associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease (CAD), blood pressure, diabetes, or hyperlipidemia, suggesting that the observed association of the locus is independent of conventional risk factors for AAA, and not due to confounding by the concomitant presence of CAD in the AAA patients, the researchers say.

They point out that, currently, endovascular or surgical repair of the aneurysms when they reach a size of more than 5.5 cm, become symptomatic, or present acutely following rupture, is the only therapeutic option for AAA patients. Therefore, identifying the gene locus for the condition could lead to new advances in treatment, Bown et al conclude in the American Journal of Human Genetics.

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By Piriya Mahendra