摘要目的 探讨晚期糖基化终产物受体(RAGE)基因多态性与缺血性脑卒中遗传易感的关系. 方法 采用病例对照研究方法,选取河南汉族老年人124例缺血性脑卒中患者为脑卒中组,125例同期健康体检者为对照组,利用限制性片段长度多态性分析方法对RAGE基因3个常见的多态性位点82G/S(rs2070600)、-429T/C(rs1800625)和374T/A(rs1800624)进行分型,采用Logistic回归分析方法检查上述多态性位点与缺血性脑卒中易感性的关系. 结果 与对照组比较,脑卒中组体质指数、舒张压、血脂水平明显升高,吸烟比例也明显较高,差异有统计学意义(均P＜0.05).RAGE基因82G/S位点GG基因型占29％,GS占27％,SS占44％;-429T/C位点TT基因型占15％,TC占44％,CC占41％o;-374T/A位点-TT基因型占8％,TA占41％,AA占50％.在对年龄、性别、吸烟、血压等混杂因素进行调整后结果显示,脑卒中组82G/S位点SS基因型及S等位基因频率显著高于对照组(SS:OR=2.14,95％CI:1.37～3.51;S:OR=1.96,95％CI:1.24～3.34),而两组429T/C、-374T/T位点基因型及等位基因频率差异无统计学意义(均P＞0.05). 结论 RAGE基因82G/S位点多态性与河南汉族老年人群缺血性脑卒中发病相关,其中S等位基因是缺血性脑卒中发生的危险因素,而-429T/C和-374T/A位点与缺血性脑卒中遗传易感性无关.

abstractsObjective To investigate the association of genetic polymorphism in the advanced glycation endproduct (RAGE) gene with genetic susceptibility to ischemic stroke.Methods A case-control study was conducted with 124 ischemic stroke patients serving as the stroke group and 125 healthy volunteers serving as the control group.Three common polymorphisms in the RAGE gene,82G/S (rs2070600),-429T/C (rs1800625) and-374T/A (rs1800624),were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP) method.The association between the three polymorphisms and genetic susceptibility to ischemic stroke was further analyzed by logistic regression analysis.Results The body mass index (BMI),diastolic blood pressure,blood lipids levels,and the percentage of smokers were significantly higher in the stroke group than in the control group (each P＜0.05).At the 82 position,the frequencies of the genotypes GG,GS and SS were 10％,48％ and 42％,respectively.At the 429 position,the frequencies of the genotypes TT,TC and CC were 15％,44％ and 41％,respectively.At the 374 position,the frequencies of the genotypes TT,TA and AA were 8％,41％ and 50％,respectively.After adjusting for confounding factors including age,gender,smoking and blood pressure,the genotype frequencies of SS and S alleles at 82G/S of the RAGE gene were higher in the stroke group than in control group (SS:OR=2.14,95％ CI:1.37-3.51;S:OR=1.96,95％ CI:1.24-3.34),while no significant differences of genotype frequencies of the 429T/C and-374T/T polymorphisms were observed between the stroke group and the control group (each P＞0.05).Conclusions The 82G/S gene polymorphism of the RAGE gene has correlations with ischemic stroke in the Henan Han population,with the S allele as the risk factor for ischemic stroke.However,no clear association between the 429T/C or-374T/A polymorphisms of the RAGE gene and ischemic stroke is identified in the Han population.