Published online before print May 15, 2003, doi: 10.1161/01.STR.0000072822.35605.8B
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
(Stroke. 2003;34:1370.)
© 2003 American Heart Association, Inc.
Original Contributions |
Familial Intracranial Aneurysms
An Analysis of 346 Multiplex Finnish Families
From the Center for Molecular Medicine and Genetics (S.W., M. van der V., H.K., G.T.) and Department of Surgery (H.K.), Wayne State University School of Medicine, Detroit, Mich; Department of Neurosurgery, University of Kuopio, Kuopio, Finland (A.R., K.H.); and Department of Neurosurgery, University of Helsinki, Helsinki, Finland (E.L., J.F., M.N., J.J., J.H.).
Reprint requests to Gerard Tromp, PhD, 3116 Gordon H. Scott Hall of Basic Medical Sciences, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 540 E Canfield Ave, Detroit, MI 48201. E-mail tromp{at}sanger.med.wayne.edu
Background and Purpose— Genetic risk factors are considered important in the development, growth, and rupture of intracranial aneurysms; however, few have been identified. We analyzed intracranial aneurysm families with at least 2 affected persons and determined relationships between affected persons and assessed the inheritance patterns of aneurysms.
Methods— Families with 
2 members with verified diagnoses of intracranial aneurysms were recruited from Kuopio and Helsinki, Finland. Families with a diagnosis of other heritable disorders that have associated intracranial aneurysms, such as autosomal dominant polycystic kidney disease, were excluded.
Results— We identified 346 Finnish multiplex families with 160 (46.2%) male and 186 (53.8%) female index cases. There were a total of 937 aneurysm cases, with an average of 2.7 cases per family. The majority of the families had only 2 affected relatives (n=206; 59.5%), although there were families with up to 6 (n=10), 7 (n=1), 8 (n=1), or 10 (n=2) affected persons. The affected relatives of the index cases included 108 sisters, 116 brothers, 105 parents, 30 children, 15 grandparents, 102 aunts or uncles, and 64 cousins. Of the 937 affected persons, 569 (60.7%) were alive and available for genetic analysis. Inheritance patterns consistent with autosomal recessiveness were observed in 198 (57.2%), autosomal dominance in 126 (36.4%), and autosomal dominance with incomplete penetrance in 19 (5.5%) of the families.
Conclusions— The collection is the most extensive published to date and extends previous observations of familial aggregation that are consistent with a major gene effect.
Key Words: genetics • pedigree • risk factors • stroke • subarachnoid hemorrhage
This article has been cited by other articles:
 |
|
 |
|
  S. Weinsheimer, K. A.B. Goddard, A. R. Parrado, Q. Lu, M. Sinha, E. R. Lebedeva, A. Ronkainen, M. Niemela, E. K. Khusnutdinova, R. I. Khusainova, et al. Association of Kallikrein Gene Polymorphisms With Intracranial Aneurysms Stroke, October 1, 2007; 38(10): 2670 - 2676. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Mineharu, K. Inoue, S. Inoue, S. Yamada, K. Nozaki, N. Hashimoto, and A. Koizumi Model-Based Linkage Analyses Confirm Chromosome 19q13.3 as a Susceptibility Locus for Intracranial Aneurysm Stroke, April 1, 2007; 38(4): 1174 - 1178. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D J Verlaan, M-P Dube, J St-Onge, A Noreau, J Roussel, N Satge, M C Wallace, and G A Rouleau A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3. J. Med. Genet., June 1, 2006; 43(6): e31 - e31. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M.-L. Arnold, C. Grond-Ginsbach, I. Hausser, T. Brandt, B. Krischek, I. Inoue, and H. Kasuya Collagen Morphology Is Not Associated With the Ala549Pro Polymorphism of the COL1A2 Gene * Response: Stroke, October 1, 2005; 36(10): 2068 - 2069. [Full Text] [PDF]
|
|
|
|
 |
|
 M. D. Tilson III The Polymorphonuclear Leukocyte and the Abdominal Aortic Aneurysm: A Neglected Cell Type and a Neglected Disease Circulation, July 12, 2005; 112(2): 154 - 156. [Full Text] [PDF]
|
|
|
|
 |
|
 G. M. Teasdale, J. M. Wardlaw, P. M. White, G. Murray, E. M. Teasdale, V. Easton, and on behalf of the Davie Cooper Scottish Aneurysm St The familial risk of subarachnoid haemorrhage Brain, July 1, 2005; 128(7): 1677 - 1685. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Slowik, A. Borratynska, W. Turaj, J. Pera, T. Dziedzic, D. A. Figlewicz, M. Betlej, T. Krzyszkowski, R. Czepko, and A. Szczudlik {alpha}1-Antichymotrypsin Gene (SERPINA3) A/T Polymorphism as a Risk Factor for Aneurysmal Subarachnoid Hemorrhage Stroke, April 1, 2005; 36(4): 737 - 740. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Yamada, M. Utsunomiya, K. Inoue, K. Nozaki, S. Inoue, K. Takenaka, N. Hashimoto, and A. Koizumi Genome-Wide Scan for Japanese Familial Intracranial Aneurysms: Linkage to Several Chromosomal Regions Circulation, December 14, 2004; 110(24): 3727 - 3733. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Frosen, A. Piippo, A. Paetau, M. Kangasniemi, M. Niemela, J. Hernesniemi, and J. Jaaskelainen Remodeling of Saccular Cerebral Artery Aneurysm Wall Is Associated With Rupture: Histological Analysis of 24 Unruptured and 42 Ruptured Cases Stroke, October 1, 2004; 35(10): 2287 - 2293. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y.B.W.E.M. Roos, G. Pals, P.M. Struycken, G.J.E. Rinkel, M. Limburg, J.C. Pronk, J.S.P. van den Berg, J.A.F.M. Luijten, P.L. Pearson, M. Vermeulen, et al. Genome-Wide Linkage in a Large Dutch Consanguineous Family Maps a Locus for Intracranial Aneurysms to Chromosome 2p13 Stroke, October 1, 2004; 35(10): 2276 - 2281. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Slowik, A. Borratynska, J. Pera, M. Betlej, T. Dziedzic, T. Krzyszkowski, R. Czepko, D. A. Figlewicz, and A. Szczudlik II Genotype of the Angiotensin-Converting Enzyme Gene Increases the Risk for Subarachnoid Hemorrhage From Ruptured Aneurysm Stroke, July 1, 2004; 35(7): 1594 - 1597. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y.M. Ruigrok, G.J.E. Rinkel, C. Wijmenga, G. Tromp, and S. Wills Familial Intracranial Aneurysms * Response Stroke, March 1, 2004; 35 (3): e59 - e60. [Full Text] [PDF]
|
|