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

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Dietmar Krex - , Klinik und Poliklinik für Neurochirurgie (Autor:in)
  • Stefanie Fortun - , Technische Universität Dresden (Autor:in)
  • Eberhard Kuhlisch - , Technische Universität Dresden (Autor:in)
  • Hans K. Schackert - , Technische Universität Dresden (Autor:in)
  • Gabriele Schackert - , Technische Universität Dresden (Autor:in)

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

OriginalspracheEnglisch
Seiten (von - bis)1250-1255
Seitenumfang6
FachzeitschriftJournal of cerebral blood flow and metabolism
Jahrgang26
Ausgabenummer10
PublikationsstatusVeröffentlicht - 18 Okt. 2006
Peer-Review-StatusJa

Externe IDs

PubMed 16467782

Schlagworte

Schlagwörter

  • Genetics, Intracranial aneurysm, Nitric oxide synthase, Polymorphism