Original Article
Journal of Cerebral Blood Flow & Metabolism (2006) 26, 1250–1255. doi:10.1038/sj.jcbfm.9600284; published online 8 February 2006
The role of endothelial nitric oxide synthase (eNOS) genetic variants in European patients with intracranial aneurysms
Dietmar Krex1, Stefanie Fortun1, Eberhard Kuhlisch2, Hans K Schackert3 and Gabriele Schackert1
- 1Department of Neurosurgery, Carl Gustav Carus Hospital of University of Technology, Dresden, Germany
- 2Institute of Medical Informatics and Biometry, Carl Gustav Carus Hospital of University of Technology, Dresden, Germany
- 3Department of Surgical Research, Carl Gustav Carus Hospital of University of Technology, Dresden, Germany
Correspondence: Dr D Krex, Department of Neurosurgery, Carl Gustav Carus Hospital of University of Technology, Fetscherstr. 74, Dresden 01307, Germany. E-mail: krex@rcs.urz.tu-dresden.de
Received 19 October 2005; Revised 13 December 2005; Accepted 9 January 2006; Published online 8 February 2006.
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.
Keywords:
genetics, intracranial aneurysm, nitric oxide synthase, polymorphism
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