Human Genetics

, Volume 114, Issue 3, pp 250–255

Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm

  • James M. Farnham
  • Nicola J. Camp
  • Susan L. Neuhausen
  • Jay Tsuruda
  • Dennis Parker
  • Joel MacDonald
  • Lisa A. Cannon-Albright
Original Investigation

DOI: 10.1007/s00439-003-1044-z

Cite this article as:
Farnham, J.M., Camp, N.J., Neuhausen, S.L. et al. Hum Genet (2004) 114: 250. doi:10.1007/s00439-003-1044-z

Abstract

A significant linkage of intracranial aneurysm (IA) has recently been reported to chromosomal region 7q11 (MLS=3.22) in a genomic search of 85 Japanese nuclear families with at least two affected siblings (104 sib pairs). This region contains the elastin gene (ELN, OMIM 130160), which is a functional candidate gene for IA. We have replicated this finding through linkage analyses in 13 extended pedigrees from Utah, comprising 39 IA cases. We genotyped three markers flanking ELN and performed two-point and multipoint parametric analyses, employing simple dominant and recessive models. Analyses utilizing a recessive affecteds-only model yielded significant confirmation of linkage to the region (best evidence, multipoint TLOD=2.34, at D7S2421, corrected P=0.001). This study is the first to confirm the linkage of the 7q11 locus for IA.

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • James M. Farnham
    • 1
  • Nicola J. Camp
    • 1
    • 4
  • Susan L. Neuhausen
    • 1
    • 5
  • Jay Tsuruda
    • 2
  • Dennis Parker
    • 1
    • 2
  • Joel MacDonald
    • 3
  • Lisa A. Cannon-Albright
    • 1
    • 4
  1. 1.Department of Medical InformaticsUniversity of Utah School of MedicineSalt Lake CityUSA
  2. 2.Department of RadiologyUniversity of Utah School of MedicineSalt Lake CityUSA
  3. 3.Department of NeurosurgeryUniversity of Utah School of MedicineSalt Lake CityUSA
  4. 4.Intermountain Health CareGenetic ResearchSalt Lake CityUSA
  5. 5.Division of Epidemiology, Department of MedicineUniversity of California IrvineIrvineUSA