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

Nat Genet. 2011 Sep 11;43(10):996-1000. doi: 10.1038/ng.934.

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 < 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.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Aneurysm, Thoracic / pathology
  • Case-Control Studies
  • Chromosomes, Human, Pair 15 / genetics*
  • DNA / genetics
  • DNA / isolation & purification
  • Fibrillin-1
  • Fibrillins
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Genotyping Techniques
  • Humans
  • Linkage Disequilibrium
  • Marfan Syndrome / genetics
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / metabolism
  • Mutation
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins
  • DNA