gms | German Medical Science

55. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie e. V. (DGNC)
1. Joint Meeting mit der Ungarischen Gesellschaft für Neurochirurgie

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

25. bis 28.04.2004, Köln

Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11

Genlocus für intrakranielle Aneurysmen auf dem Chromosom 7q11

Meeting Abstract

  • corresponding author Boris Krischek - Klinik für Neurochirurgie, Philipps Universität Marburg, Marburg
  • H. Kasuya - Dept. of Neurosurgery, Tokyo Women's Medical University, Tokyo /J
  • I. Inoue - Division of Genetic Diagnosis, University of Tokyo, Tokyo /J
  • L. Benes - Klinik für Neurochirurgie, Philipps Universität Marburg, Marburg
  • H. Bertalanffy - Klinik für Neurochirurgie, Philipps Universität Marburg, Marburg

Deutsche Gesellschaft für Neurochirurgie. Ungarische Gesellschaft für Neurochirurgie. 55. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie e.V. (DGNC), 1. Joint Meeting mit der Ungarischen Gesellschaft für Neurochirurgie. Köln, 25.-28.04.2004. Düsseldorf, Köln: German Medical Science; 2004. DocP 02.12

The electronic version of this article is the complete one and can be found online at: http://www.egms.de/en/meetings/dgnc2004/04dgnc0295.shtml

Published: April 23, 2004

© 2004 Krischek et al.
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Outline

Text

Objective

Rupture of intracranial aneurysms causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that an intracranial aneurysm is a common disorder, with a prevalence of 3%-6%. Although it has a substantial genetic component, little attention has been given to the genetic determinants.

Methods

We report here a genomewide linkage study of intracranial aneurysms in 104 Japanese affected sib pairs in which positive evidence of linkage on chromosomes 5q22-31 (maximum LOD score [MLS] 2.24), 7q11 (MLS 3.22), and 14q22 (MLS 2.31) were found. A cohort of 100 Caucasian patients with intracranial aneurysms are currently being examined in the same fashion.

Results

The best evidence of linkage is detected at D7S2472, in the vicinity of the elastin gene (ELN), a candidate gene for intracranial aneurysms. Fourteen distinct single-nucleotide polymorphisms (SNPs) were identified in ELN, and no obvious allelic association between IA and each SNP was observed. The haplotype between the intron-20/intron-23 polymorphism of ELN is strongly associated with IA (P=3.81x10-6), and homozygous patients are at high risk (P=.002), with an odds ratio of 4.39.

Conclusions

These findings suggest that a genetic locus for IA lies within or close to the ELN locus on chromosome 7 in a cohort of Japanese patients.