自发性蛛网膜下腔出血患者内皮型一氧化氮合酶基因突变与不良预后的相关性

Correlation between endothelial nitric oxide synthase gene mutation and poor prognosis in patients with spontaneous SAH

目的研究自发性蛛网膜下腔出血患者内皮型一氧化氮合酶(eNOS)基因突变与不良预后的相关性。方法选取2019年10月至2022年10月巴彦淖尔市医院收治的240例自发性蛛网膜下腔出血患者。采用TaqMan法检测eNOS基因rs1799983位点多态性,分析eNOS基因rs1799983位点基因型与不良预后的关系。根据不良预后情况将患者分为良好组167例和不良组73例,比较2组患者临床资料,采用多因素logistic回归分析影响不良预后的危险因素。结果eNOS基因rs1799983位点存在3种基因型:GG(156例)、GT(58例)、TT(26例),G和T等位基因频率分别为77.08%和22.92%。并发症发生率为30.42%。GG基因型的并发症发生率显著低于GT+TT基因型(25.64%vs39.29%,P<0.05);不良组发热比例显著高于良好组(26.03%vs11.98%,P<0.01)。不良组Hunt-Hess分级Ⅰ~Ⅱ级、Fisher分级Ⅰ~Ⅱ级比例低于良好组(P<0.05)。多因素logistic回归分析显示,发热、Hunt-Hess分级、Fisher分级、eNOS基因rs1799983位点基因型均是不良预后的影响因素(P<0.05,P<0.01),其中发热、Hunt-Hess分级Ⅲ~Ⅴ级、Fisher分级Ⅲ~Ⅳ级、eNOS基因rs1799983位点基因型GT+TT增加并发症的发生风险(P<0.05)。结论eNOS基因rs1799983位点多态性与自发性蛛网膜下腔出血患者不良预后密切关联,其中G→T突变增加患者不良预后风险。

Objective To determine the relationship of mutation of endothelial nitric oxide synthase(eNOS)gene with poor prognosis in patients with spontaneous subarachnoid haemorrhage(SAH).Methods A total of 240 patients with spontaneous SAH admitted to our hospital from October 2019 to October 2022 were recruited in this study.TaqMan assay was used to detect rs1799983 polymorphism of eNOS gene,and the relationship between the genotype and poor prognosis was analyzed.According to the prognosis,the patients were divided into good prognosis group(167 cases)and poor group(73 cases).The clinical data were compared between the two groups,and the risk factors for poor prognosis were analyzed by multivariate logistic regression analysis.Results There were three genotypes at rs1799983 of eNOS gene:GG(156 cases),GT(58 cases)and TT(26 cases),with a frequency of G and T alleles of 77.08%and 22.92%,respectively.The incidence rate of complications were 30.42%,and the rate was significantly lower in the patients carrying GG genotype than those of GT+TT genotype(25.64%vs 39.29%,P<0.05).The fever rate was obviously higher in the poor prognosis group than the good prognosis group(26.03%vs 11.98%,P<0.01).The proportions of Hunt-Hess gradeⅠtoⅡand Fisher gradeⅠtoⅡwere statistically lower in the poor prognosis group than the good group(P<0.05).Multivariate logistic regression analysis showed that fever,Hunt-Hess grade,Fisher grade,and rs1799983 genotypes of eNOS gene were all influencing factors for poor prognosis(P<0.05,P<0.01).And fever,Hunt-Hess gradeⅢtoⅤ,Fisher gradeⅢtoⅣ,and eNOS gene rs1799983 genotype GT+TT increased the risk of complications(P<0.05).Conclusion The rs1799983 polymorphism of eNOS gene is closely associated with poor prognosis in patients with spontaneous SAH,and G→T mutation increases the risk of poor prognosis.