The role of endothelial nitric oxide synthase (eNOS) genetic variants in European patients with intracranial aneurysms.
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 sequencertrade mark 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.
Department of Neurosurgery, Carl Gustav Carus Hospital of University of Technology, Dresden, Germany. krex@rcs.urz.tu-dresden.de
Dietmar
D
Krex
Stefanie
S
Fortun
Eberhard
E
Kuhlisch
Hans K
HK
Schackert
Gabriele
G
Schackert
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005060:Europe / Q000208:ethnology; D005260:Female; D005838:Genotype; D006801:Humans; D002532:Intracranial Aneurysm / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III