The first phase of the study analyzed several hundred thousand SNPs across the genomes of more than 30,000 Icelandic and Dutch participants, comparing the genotypes of those diagnosed with AAA to those of control subjects. A version of the rs7025486 SNP was found to confer a 20% increase in risk of AAA, an enlargment of the aorta that, if undiagnosed or left untreated, can lead to rupture, an event that is often fatal. The SNP was then analyzed in tens of thousands of patients and controls from a dozen countries to validate the finding in AAA and to check for association with other vascular diseases. In addition to replicating the association with risk of AAA, it was also found to confer risk of heart attack and early-onset heart attack, PAD and pulmonary embolism. The latter is noteworthy because it is a disease of the veins, and has traditionally been considered distinct from arterial disease. The paper, 'Genome-wide association study identifies sequence variants within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm,' is published online in Nature Genetics at nature/ng and will appear in an upcoming print edition of the journal.

SOURCE DeCODE Genetics Inc