Association of an allele on chromosome 9 and abdominal aortic aneurysm

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dc.contributor.authorBiros, E.
dc.contributor.authorCooper, M.
dc.contributor.authorPalmer, L.
dc.contributor.authorWalker, P.
dc.contributor.authorNorman, P.
dc.contributor.authorGolledge, J.
dc.date.issued2010
dc.description.abstract<h4>Objective</h4>Abdominal 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.<h4>Methods</h4>All men were assessed for other risk factors in a uniform way and an ultrasound of the abdominal aorta was performed.<h4>Results</h4>Our 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.<h4>Conclusion</h4>This 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.
dc.description.statementofresponsibilityErik Biros, Matthew Cooper, Lyle J. Palmer, Philip J. Walker, Paul E. Norman, Jonathan Golledge
dc.identifier.citationAtherosclerosis, 2010; 212(2):539-542
dc.identifier.doi10.1016/j.atherosclerosis.2010.06.015
dc.identifier.issn0021-9150
dc.identifier.issn1879-1484
dc.identifier.orcidPalmer, L. [0000-0002-1628-3055]
dc.identifier.urihttp://hdl.handle.net/2440/83493
dc.language.isoen
dc.publisherElsevier Sci Ireland Ltd
dc.rightsCopyright © 2010 Elsevier Ireland Ltd. All rights reserved.
dc.source.urihttps://doi.org/10.1016/j.atherosclerosis.2010.06.015
dc.subjectAbdominal aortic aneurysm
dc.subjectRisk locus
dc.subjectRetrotransposons
dc.titleAssociation of an allele on chromosome 9 and abdominal aortic aneurysm
dc.typeJournal article
pubs.publication-statusPublished

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