低密度脂蛋白受体基因NcoⅠ、apoC-Ⅲ基因SacⅠ多态性与动脉粥样硬化脑梗死的关系

Relationship between the polymorphism of LDL receptor gene NcoⅠ and apoC-Ⅲ gene SacⅠ and atherosclerotic cerebral infarction

目的:探讨低密度脂蛋白受体(LDL-R)基因和载脂蛋白(apo)CⅢ基因多态性与动脉粥样硬化性脑梗死(AC I)的关系。方法:用聚合酶链反应(PCR)技术检测中国辽宁籍汉族健康人104例和AC I患者77的LDL-R基因NcoⅠ、apoC-Ⅲ基因SacⅠ多态性及血脂、脂蛋白含量。结果:对照组N+及S+等位基因频率为0.667、0.274;AC I组为0.662、0.329,差异不显著(P>0.05),但AC I组S-S+与N-N+、N+N+联合存在时的频率为0.45,显著高于对照组(P<0.05),致AC I的发病相对风险率(RR)为4.2(P<0.05),致血清TG、TC、LDL-C升高的RR依次为14.30、9.40、17.40。结论:LDL-R基因N-N+、N+N+、apoC-Ⅲ基因S-S+联合存在与AC I患者血清高TG、高TC、高LDL-C相关,可能是致AC I的遗传易患因子。

Objective： To investigate the relationship between polymorphism of low density lipoprotein （LDL） receptor gene Nco Ⅰ and apoC-Ⅲ gene SacⅠ and the atherosclerotic cerebral infarction （ACI）. Methods： The PCR method was used to detect the polymorphism of LDL-R gene Nco Ⅰ and apoC-Ⅲ gene SacⅠ , blood lipid, and lipoprotein contcnt in 104 healthy controls and 77 ACI patients. All the subjects were Han nationality in Liaoning province, China. Results： N^＋ and S^＋ allele gene frequencies of control group and ACI group were 0. 667 ,0. 274 and 0. 662,0. 329, respectively. There was no significant difference between the 2 groups （P 〉 0. 05）. The combined appearance frequency of S^＋ and N^＋ allele gene in ACI group was 0, 45, which was markedly higher than that of control group （ P 〈 0. 05） . Relative risk （RR） leading to ACI was 4.20 （ P 〈 0. 05） ; RR leading to the rise of TG,TC, and LDL-C were 14.30,9.40, and 17.40. Conclusion： The combined appearance of N^＋ and S^＋ allele gene in LDL-R and apoCm gene can affect the blood lipid and lipoprotein content. It may also have close relationship with the occurrence of ACI.