动脉粥样硬化性脑梗塞与低密度脂蛋白受体基因NcoⅠ、AvaⅡ多态性的关系

Relationship between the NcoⅠ, AvaⅡ polymorphism of low density lipoprotein receptor gene and atherosclerotic cerebral infarction

目的 探讨动脉粥样硬化性脑梗死 (atherosclerotic cerebral infarction,ACI)与低密度脂蛋白受体 (low density lipoprotein receptor,L DL- R)基因 Nco 、Ava 多态性的关系。方法 用聚合酶链反应技术检测 113名辽宁藉汉族健康人和 77例 ACI患者的 L DL- R基因 Nco 、Ava 多态性及血脂、载脂蛋白的含量。结果 L DL- R基因 Nco 、Ava 等位基因频率健康人 N+为 0 .6 6 7、A+为 0 .2 30 ;ACI组N+为 0 .6 6 2、A+为 0 .12 5。A- A- 与 N+N+联合存在时 ACI的发病相对风险率 (RR)为 5 .5 6 (P<0 .0 0 1) ,引起血清 TG、TC、L DL - C、L P(a)升高的相对风险率依次为 4.2 9、7.6 7、9.33、3.0 9(P<0 .0 5 )。结论 L DL - R基因 A- A- 与 N+N+联合存在影响血脂、脂蛋白的含量 ,与 ACI密切相关。

Objective To investigate the relationship between the NcoⅠ, AvaⅡ polymorphism of low density lipoprotein receptor (LDL-R) gene in patients with the occurrence of atherosclerotic cerebral infarction (ACI) among the Han nationality in Liaoning province. Methods The polymerase chain reaction technique was used to study the polymorphisms of LDL-R gene and allele frequencies in 77 patients with ACI and in 113 age-matched Chinese healthy controls .The levels of the lipid and lipoproteins were also compared among the cases with ACI and the controls. Results A + frequencies of LDL-R gene in healthy controls and ACI group were 0.230 and 0.125 respectively, while the N + frequencies of healthy control and ACI group was 0.667 and 0.662 respectively. In case of the coexistence of A -A - and N +N +, the relative risk (RR) of ACI was 5.56( P <0.001), while the RR of the increase of serum levels TG,TC,LDL-C,LP(a) were 4.29, 7.67, 9.33 and 3.09( P <0.05), respectively. Conclusion The coexistence of A -A - and N +N + can affect the concentration of lipid and lipoprotein and is in close relationship with the occurrence of ACI.