粤西汉族人群血浆谷胱甘肽过氧化物酶基因启动子区-723C/T基因多态性与脑梗死的关系

目的 研究粤西汉族人群谷胱甘肽过氧化物酶(GPX-3)基因启动子区-723C/T基因多态性的分布及其与脑梗死的关系. 方法 检测佛广东医学院附属医院神经科自2007年2月至2008年2月收治的粤西地区汉族脑梗死患者102例(病例组)和同期粤西地区汉族健康体检者101例(对照组)的GPX-3基因启动子区-723C/T基因多态性,比较2组的一般资料、卒中危险因素及-723C/T基因多态性的分布特点,多元Logistic回归分析影响脑梗死发生的危险因素,并对筛选出的危险因素进行分层分析. 结果 与对照组比较,病例组高血压、糖尿病病史比例,血糖水平,-723C/T CC基因型频率及C等位基因频率均较高,差异有统计学意义(P＜0.05)；多元Logistic回归分析显示-723C/T基因型、高血压病史、糖尿病史是脑梗死发生的独立危险因素；与没有任何危险因素亦不携带风险基因型者比较,有危险因素又携带CC基因型者脑梗死发病风险明显增加,差异有统计学意义(P＜0.05). 结论 中国粤西地区汉族人群GPX -3基因启动子区-723C/T位点存在多态性,C等位基因是脑梗死的危险因素,CC基因型为脑梗死的易感基因型,也是独立危险因素.

Association of promoter polymorphisms in the plasma glutathione peroxidase gene at the -723C/T locus with cerebral infarction

Objective To investigate the relation between -723C/T single nucleotide polymorphisms (SNPs) of plasma glutathione peroxidase (GPX-3) gene promoter and cerebral infarction (CI).Methods By using a case-control method,102 patients with CI admitted to our hospital from February 2007 to February 2008 and 101 healthy subjects of Chinese Han populations of Western Guangdong were recruited in the study.The genotypes and alleles of-723C/T SNPs of GPX-3 promoter were analyzed by polymerase chain reaction and restriction fragment length polymorphism to investigate the distribution characteristics between the normal population and patients with CI; and the clinical data and stroke risk factors were compared between the 2 groups.Multivariate logistic regression was employed to analyze the risk factors of cerebral infarction,and stratified analysis was performed on these risk factors.Results The genotype frequencies of-723C/T in Western Guangdong Hart population were:CC 80.30％,CT 19.70％,respectively,and no genotype TT was found in this study.Allele frequencies were:C 90.15％,T 9.85％,respectively; the CC genotype frequency (86.27％) in patient group was higher than that in controls (74.26％),and the difference was significant (P=0.031); C allele frequency in patient group (93.14％) was higher than that in controls (87.13％),and the difference was also significant (P=0.042).By logistic regression analysis,the -723C/T genotype and history of hypertension and diabetes mellitus were the independent risk factors of CI.As compared with the subjects without carrying any risk factors or risk genotype,subjects carrying risk factors and CC genotype had significantly higher risk of CI (P＜0.05).Conclusion The -723 C/T SNPs ofGPX-3 gene promoter exists in Western Guangdong Chinese Han population; the C allele is a risk factor for CI; CC genotype may be the susceptible genotype with CI and the independent risk factor.