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PubMed ID:
21909107
Public Release Type:
Journal
Publication Year: 2011
Affiliation: Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
DOI:
https://doi.org/10.1038/ng.934
Authors:
Miller CC 3rd,
Johnson RJ,
Milewicz DM,
Leal SM,
Belmont JW,
Safi HJ,
Estrera AL,
Coselli JS,
Bray M,
Seidman JG,
Isselbacher EM,
Bekheirnia MR,
Seidman C,
Body SC,
Eagle K,
Holmes KW,
Maslen C,
Devereux R,
Bavaria JE,
Franco LM,
Pyeritz RE,
LeMaire SA,
McDonald ML,
Nguyen M,
Guo DC,
Russell L
Studies:
Inflammatory Bowel Disease Genetics
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 < 1 × 10(-5) in the region, in two separate STAAD cohorts. The associated SNPs fall into a large region of linkage disequilibrium encompassing FBN1, which encodes fibrillin-1. FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD. This study shows that common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD, suggesting a common pathogenesis of aortic disease in Marfan syndrome and STAAD.
