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A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3
  1. D J Verlaan1,2,
  2. M-P Dubé3,
  3. J St-Onge1,
  4. A Noreau1,
  5. J Roussel1,
  6. N Satgé1,
  7. M C Wallace4,
  8. G A Rouleau1
  1. 1Faculté de Médecine, Université de Montréal, Centre de recherche du CHUM, Hôpital Notre-Dame, Montreal, Quebec, Canada
  2. 2Department of Human Genetics, McGill University, Montreal, Quebec, Canada
  3. 3Faculté de Médecine, Université de Montréal, Montreal Heart Institute, Montréal, Quebec, Canada
  4. 4Division of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Canada
  1. Correspondence to:
 Dr Guy A Rouleau
 Centre de recherche du CHUM, Hôpital Notre-Dame, 1560 rue Sherbrooke Est, Bureau Y-3633, Montréal, Québec, Canada H2L 4M1; guy.rouleau{at}umontreal.ca

Abstract

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.

  • FC, French Canadian
  • HLOD, heterogeneity score
  • IA, intracranial aneurysms
  • MRA, magnetic resonance angiography
  • SAH, subarachnoid haemorrhage
  • genome-wide scan
  • intracranial aneurysm
  • locus

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Footnotes

  • DJV is supported by an FRSQ-FCAR scholarship. GAR is supported by the CIHR, the FRSQ, and the NIH.

  • Competing interests: none declared

  • Ethics approval: this study was approved by the Montreal General Hospital Research Ethics Committee, Quebec, Canada

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