NOS3基因多态性与合并高血压病的缺血性卒中关系的研究

A population-based study of the NOS3 gere polymorphism for ischemic stroke with hypertension in a Chinese population

目的探讨NOS3基因多态性与合并高血压病的缺血性卒中的关系。方法以rs1800780位点为遗传标记,采用聚合酶链反应（PCR）和限制性片断长度多态性（RFLP）,检测605例缺血性卒中患者和313例对照组人群NOS3基因的多态性。结果缺血性卒中组和对照组的rs1800780位点等位基因、基因型频率差异无统计学意义;以是否合并高血压病对病例组人群进行分层后,cocaphase分析表明合并高血压的缺血性卒中组rs1800780位点的G等位基因频率较单纯缺血性卒中组明显增高（χ^2=5.508,df=1,P=0.019,OR=1.431,95%CI1.061~1.930）。卡方检验表明合并高血压病的缺血性卒中组GG基因型的频率较单纯缺血性卒中组明显增高（χ^2=6.322,P=0.042,df=2）。结论NOS3基因与缺血性卒中的发病无关,可能与高血压病的发生相关。

Objective To investigate the genetic association between the NOS3 gene and stroke with a history of hypertension. Methods 605 cases with stroke and 313 heahhy controls were recruited in this study,and the stroke group was delaminated into two subgroups according to the history of hypertension. SNP rs18.00780,an A to G base change located in intron 12 of the gene,was used as a genetic marker. PCR-based restriction fragment length ,polymorphism analysis was applied for genotype rs1800780 （MSP I site）. Results The Χ^2 test showed no association between patients with stroke and healthy controls. Of 605 patients ,493 with a history of hypertension and the frequency of allele G of rs1800780 was significantly higher in patients with a history of hypertension than those without such a history （Χ^2 = 5. 508, df = 1, P = 0.019, OR = 1. 431,95% CI 1. 061 -1. 930）. And the frequency of GG genotype had significant difference in patients with a history of hypertension than those without such a history（ Χ^2 = 6. 322,df = 2,P = 0. 042）. Conclusions The present study suggests that the NOS3 gene is unlikely to contribute to the etiology of stroke but it supports the hypothesis that the NOS3 gene may be responsible for the development of hypertension.