A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3

J Med Genet. 2006 Jun;43(6):e31. doi: 10.1136/jmg.2005.033209.


Background: Intracranial aneurysms (IA) are dilatations of intracranial arteries that occur most commonly at arterial bifurcations. Unruptured IA are present in approximately 1-2% of the population aged over 30 years of age. Aneurysms are only rarely symptomatic unless they rupture, which typically results in a subarachnoid haemorrhage associated with high morbidity and mortality.

Methods: A large French Canadian (FC) family (Aneu60) was identified which contained 12 affected individuals with intracranial aneurysms. Nine of the affected patients and three unaffected individuals were sent for an 8 cM genome-wide scan. Multipoint and two-point methods were used to analyse the scan data by using a dominant parametric model.

Results: We identified an IA susceptibility locus (ANIB4) located on chromosome 5p15.2-14.3. The locus was found by genome-wide linkage analysis and follow up analyses provided a maximum multipoint LOD score of 3.57 over the region. An identical haplotype segment of 7.2 Mb was found in a second FC pedigree and contributes to the refinement of the candidate gene interval.

Conclusions: Our results indicate that there is a major gene locus on chromosome 5p.

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5*
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Intracranial Aneurysm / diagnosis
  • Intracranial Aneurysm / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Smoking