作者
Matthew J Bown, Gregory T Jones, Seamus C Harrison, Benjamin J Wright, Suzannah Bumpstead, Annette F Baas, Solveig Gretarsdottir, Stephen A Badger, Declan T Bradley, Kevin Burnand, Anne H Child, Rachel E Clough, Gillian Cockerill, Hany Hafez, D Julian A Scott, Simon Futers, Anne Johnson, Soroush Sohrabi, Alberto Smith, Matthew M Thompson, Frank M van Bockxmeer, Matthew Waltham, Stefan E Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jan D Blankensteijn, Joep AW Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A Kiemeney, Themistocles L Assimes, Ruth McPherson, Lasse Folkersen, Anders Franco-Cereceda, Jutta Palmen, Andrew J Smith, Nicolas Sylvius, John B Wild, Mette Refstrup, Sarah Edkins, Rhian Gwilliam, Sarah E Hunt, Simon Potter, Jes S Lindholt, Ruth Frikke-Schmidt, Anne Tybjærg-Hansen, Anne E Hughes, Jonathan Golledge, Paul E Norman, Andre Van Rij, Janet T Powell, Per Eriksson, Kari Stefansson, John R Thompson, Steve E Humphries, Robert D Sayers, Panos Deloukas, Nilesh J Samani
发表日期
2011/11/11
期刊
The American Journal of Human Genetics
卷号
89
期号
5
页码范围
619-627
出版商
Elsevier
简介
Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 × 10−5) in 2871 additional cases and 32,687 controls and performed further follow-up in 1491 AAA and 11,060 controls. In the discovery study, nine loci demonstrated association with AAA (p < 1 × 10−5). In the replication sample, the lead SNP at one of these loci, rs1466535, located within intron 1 of low-density-lipoprotein receptor-related protein 1 (LRP1) demonstrated significant association (p = 0.0042). We confirmed the association of rs1466535 and AAA in our follow-up study (p = 0.035). In a combined analysis (6228 AAA and 49182 controls), rs1466535 had a consistent effect size and direction in all sample sets (combined p=4 …
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MJ Bown, GT Jones, SC Harrison, BJ Wright… - The American Journal of Human Genetics, 2011