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Nature Research, Nature Genetics, 10(43), p. 996-1000

DOI: 10.1038/ng.934

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Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1

Journal article published in 2011 by Scott A. LeMaire, Merry-Lynn N. McDonald, Dong-Chuan Guo, Ludivine Russell, Charles C. Miller, Ralph J. Johnson, Mir Reza Bekheirnia, Luis M. Franco, Mary Nguyen, Reed E. Pyeritz, Joseph E. Bavaria, Richard Devereux, Cheryl Maslen, Kathryn W. Holmes, Kim Eagle and other authors.
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This paper is available in a repository.

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Abstract

Although thoracic aortic aneurysms and dissections (TAAD) can be inherited as a single-gene disorder, the genetic predisposition in the majority of affected people is poorly understood. In a multistage genome-wide association study (GWAS), we compared 765 individuals who had sporadic TAAD (STAAD) with 874 controls and identified common SNPs at a 15q21.1 locus that were associated with STAAD, with odds ratios of 1.6–1.8 that achieved genome-wide significance. We followed up 107 SNPs associated with STAAD with P