Association of an allele on chromosome 9 and abdominal aortic aneurysm

ObjectiveAbdominal aortic aneurysm (AAA) has been recognized as a multi-factorial disease with both genetic and environmental risk factors. A locus residing within non-coding DNA on chromosome 9p21.3 has recently been associated with AAA. To further investigate the significance of this site for AAA, we performed an association study on a large group of 3371 men aged 65–83 years of whom 513 had an AAA.MethodsAll men were assessed for other risk factors in a uniform way and an ultrasound of the abdominal aorta was performed.ResultsOur findings validated the strong association of the chromosome 9p21.3 SNPs rs10757278 and rs1333049 with AAA and demonstrated the upregulation of LINE-1 elements at the site of AAA.ConclusionThis study confirms a reproducible association between risk alleles on chromosome 9p21.3 and AAA. We also provide preliminary evidence for an association of LINE-1 elements with AAA which will require further investigation.