The role of endothelial nitric oxide synthase (eNOS) genetic variants in European patients with intracranial aneurysms

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Dietmar Krex - , Department of Neurosurgery (Author)
  • Stefanie Fortun - , TUD Dresden University of Technology (Author)
  • Eberhard Kuhlisch - , TUD Dresden University of Technology (Author)
  • Hans K. Schackert - , TUD Dresden University of Technology (Author)
  • Gabriele Schackert - , TUD Dresden University of Technology (Author)

Abstract

The endothelial nitric oxide synthase (eNOS) gene harbors three well-characterized genetic variants, which have been reported to be associated with various vascular diseases. Recently, conflicting results have been published relating to the role of these genetic variants in the pathogenesis of intracranial aneurysms (IA). Therefore, we analyzed these variants in a large European population of IA patients and controls. In all, 142 patients with IA and 190 controls were enrolled in our study. The -786T > C and 894G > T single-nucleotide polymorphisms (SNPs) were analyzed by direct sequencing of the corresponding sections in the genomic DNA. A variable number tandem repeat (VNTR) located in intron 4 of the gene and consisting of either four or five 27-base pair (bp) repeats was analyzed by polymerase chain reaction amplification and electrophoresis using ALF sequencer™ equipment. Genotype and allele frequencies were determined, and the frequencies in cases and controls were compared. In addition, haplotypes were constructed. There were no deviations from Hardy-Weinberg equilibrium. Genotype and allele frequencies did not differ significantly between cases and controls in any sample group or after stratification for multiple IA or aneurysm size. No single haplotype was significantly associated with the phenotype of an IA. The -786T > C, 894G > T, and 27-bp VNTR genetic variants of the eNOS gene are not associated with IA in the European population.

Details

Original languageEnglish
Pages (from-to)1250-1255
Number of pages6
JournalJournal of cerebral blood flow and metabolism
Volume26
Issue number10
Publication statusPublished - 18 Oct 2006
Peer-reviewedYes

External IDs

PubMed 16467782

Keywords

Keywords

  • Genetics, Intracranial aneurysm, Nitric oxide synthase, Polymorphism