神经突起生长抑制因子A基因多态性与缺血性脑卒中患者遗传易感性的研究

目的探讨神经突起生长抑制因子A(Nogo-A)基因单核苷酸多态性各等位基因及基因型在缺血性脑卒中(IS)患者中的分布频率,并初步分析其基因型与IS的关系及其对血脂、脂蛋白水平的影响。方法采用PCR技术和DNA测序法检测202例IS患者(IS组)及199例对照者(对照组)的Nogo-A基因内含子区rs1012603C/T、rs12464595C/T及rs2864052G/A多态性,分析各基因型及等位基因的分布频率;同时测定血脂、载脂蛋白水平,并进行分析。结果 rs1012603C/T基因型频率和等位基因频率比较,差异有统计学意义(P<0.05),等位基因频率相对风险分析发现,T等位基因携带者患IS的风险是C等位基因的1.513倍(OR=1.513,95%CI:1.069².141);与对照组比较,IS组TG、LDL-C、载脂蛋白A明显升高(P<0.05)。结论 Nogo-A基因内含子区rs1012603C/T多态性与IS的发生有关,T等位基因可能是IS患者发病的遗传易感基因。

Nogo-A gene polymorphism and genetic susceptibility in patients with ischemic stroke

Objective To study the single nucleotide polymorphism of Nogo-A gene,the distribution of different alleles and their genotypes in ischemic stroke(IS)patients,and analyze the relation between Nogo-A genotypes and its effect on blood lipid and lipoprotein level.Methods Two hundred and two IS patients served as an IS group and 199healthy subjects served as a control group in this study.Polymorphisms of rs1012603,rs12464595C/T and rs2864052G/A in Nogo-A gene intron region were detected by PCR and DNA sequencing,respectively.Distribution of different genotypes and alleles in Nogo-A gene intron region was analyzed.Blood lipid and apolipoprotein(apo)levels were routinely measured.Results However,the frequency of rs1012603C/T genotype was significant different from that of alleles(P<0.05).Relative risk analysis of the allele frequency showed that the risk to develop IS was 1.513time-higher in T allele carriers than in C allele carriers(OR=1.513,95%CI:1.069-2.141)whereas the serum TG,LDL-C and apoA levels were significantly higher in IS group than in control group(P<0.05).Conclusion Polymorphism of rs1012603C/T in Nogo-A gene intron region is related with IS.T allele may be a genetic susceptible gene for IS.