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

MMP-9 coding sequence single nucleotide polymorphisms (cSNPs) in caucasians with intracranial aneurysms

Single nucleotide polymorphism (SNPs) in der kodierenden Region von MMP-9 in einer europäischen Population mit intrakraniellen Aneurysmen

Meeting Abstract

  • corresponding author Dietmar Krex - Klinik für Neurochirurgie, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden
  • K. Kotteck - Klinik für Neurochirurgie, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden
  • I. R. König - Institut für medizinische Biometrie und Statistik (I.R.K., A.Z.), Universität Lübeck
  • A. Ziegler - Institut für medizinische Biometrie und Statistik (I.R.K., A.Z.), Universität Lübeck
  • H. K. Schackert - Klinik für Chirurgische Forschung, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden
  • G. Schackert - Klinik für Neurochirurgie, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden

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 02.13

The electronic version of this article is the complete one and can be found online at: http://www.egms.de/en/meetings/dgnc2004/04dgnc0296.shtml

Published: April 23, 2004

© 2004 Krex et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.


Outline

Text

Objective

There are several lines of evidence suggesting that matrix metalloproteinases (MMPs), and particularly MMP-9, are involved in the pathogenesis of intracranial aneurysms. Genetic variants in the promoter region of the MMP-9 gene have been found to be associated with aneurysms in at least some studies. To investigate whether single nucleotide polymorphisms (SNPs) within the coding region of the MMP-9 gene might have an impact upon the development of intracranial aneurysms, we performed a case-control study.

Methods

All 13 exons and the 3Žuntranslated region (3ŽUTR) of the MMP-9 gene were analyzed by direct sequencing in a study group comprising 40 Caucasian patients with at least one intracranial aneurysm, and 44 Caucasian controls. Genotypes were determined, and those in Hardy-Weinberg disequilibrium were analyzed in another sample of 40 cases and 40 controls, respectively. Differences between the genotype frequencies of the identified polymorphisms were investigated.

Results

Seven SNPs were identified in the coding region, two in introns, and two in the 3ŽUTR. Genotype frequencies of four SNPs were found to be in Hardy-Weinberg disequilibrium in both analyzed study samples. Therefore, an accurate estimation of haplotype frequencies was not possible. No difference in genotype frequencies between cases and controls was detected at any of the ten SNPs.

Conclusions

SNPs of the coding region, adjacent intronic sequences, and the 3ŽUTR of the MMP-9 gene are not associated with intracranial aneurysms in Caucasians.