Krischek Boris, Kasuya Hidetoshi, Akagawa Hiroyuki, Tajima Atsushi, Narita Akira, Onda Hideaki, Hori Tomokatsu, Inoue Ituro
Division of Genetic Diagnosis, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
J Neurosurg. 2006 Nov;105(5):717-22. doi: 10.3171/jns.2006.105.5.717.
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).
The three eNOS polymorphisms 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.
近期研究人员发现,内皮型一氧化氮合酶(eNOS)基因启动子单核苷酸多态性(SNP)T-786C、内含子4中27个碱基对串联重复序列可变数目以及外显子7中的G894T SNP这三种串联多态性的存在,在一组白种人患者样本中表明颅内动脉瘤更易于破裂。在本研究中,作者试图确定这些eNOS多态性的存在是否能够表明哪些日本动脉瘤患者更容易因蛛网膜下腔出血(SAH)而处于危险之中。
采用聚合酶链反应对297例破裂动脉瘤(RA)患者、108例未破裂动脉瘤(UA)患者和176名健康志愿者的三种eNOS多态性进行基因分型。RA组和UA组之间变异等位基因的分布无显著差异(p>0.05)。两组之间相应基因型的频率及单倍型分析均未显示任何显著差异。RA组和UA组与对照组的进一步比较也未产生任何显著的等位基因或基因型频率差异。结论。这些数据表明,所检测的这组eNOS多态性并不能表明哪些日本颅内动脉瘤患者会发生SAH。在日本患者样本中,eNOS多态性的存在对于识别更易于破裂的颅内动脉瘤并无用处。