Using endothelial nitric oxide synthase gene polymorphisms to identify intracranial aneurysms more prone to rupture in Japanese patients

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  • 1 Division of Genetic Diagnosis, Institute of Medical Science, The University of Tokyo; Department of Neurosurgery, Neurological Institute, Tokyo Women’s Medical University, Tokyo, Japan; and Department of Neurosurgery, Philipps University Hospital Marburg, Germany
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Object

Recent investigators found that the presence of three tandem polymorphisms of the endothelial nitric oxide synthase (eNOS) gene—promoter single nucleotide polymorphism (SNP) T-786C, intron-4 27-bp variable number of tandem repeats, and the G894T SNP in exon 7—was indicative of intracranial aneurysms more prone to rupture in a Caucasian patient sample. In the present study, the authors sought to determine whether the presence of these eNOS polymorphisms could indicate which Japanese patients with aneurysms were more endangered by a subarachnoid hemorrhage (SAH).

Methods

The three eNOSpolymorphisms were genotyped in 297 patients with ruptured aneurysms (RAs), 108 patients with unruptured aneurysms (UAs), and 176 healthy volunteers by using polymerase chain reaction.

The distribution of the variant alleles did not differ significantly (p > 0.05) between the RA group and the UA group. The frequency of the corresponding genotypes between the two groups and a haplotype analysis did not show any significant differences. Further comparisons of the RA and UA groups with the control group did not yield any significant allele or genotype frequency differences.

Conclusions

These data show that the examined set of eNOS polymorphisms were not indicative of which Japanese patients with intracranial aneurysms would suffer an SAH. The presence of eNOS polymorphisms is not useful in identifying intracranial aneurysms that are more prone to rupture in a Japanese patient sample.

Abbreviations used in this paper:

eNOS = endothelial nitric oxide synthase; PCR = polymerase chain reaction; RA = ruptured aneurysm; SAH = subarachnoid hemorrhage; SNP = single nucleotide polymorphism; UA = unruptured aneurysm; VNTR = variable number of tandem repeats.

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