载脂蛋白B基因多态性与有家族聚集现象脑梗死的关系及其对血脂的影响

The association of apolipoprotein B gene polymorphism with cerebral infarction with positive family history and its effect on plasma lipid levels

目的探讨载脂蛋白B（apoB）基因G12669A多态性与长沙地区汉族人群有家族聚集现象脑梗死的关系及其对血脂的影响。方法采用聚合酶链反应-限制性片段长度多态性法（PCRRFLP）检测15个有家族聚集现象脑梗死家系的147例家系成员（其中脑梗死患者47例、Ⅰ级亲属43例、Ⅱ级亲属28例、Ⅲ级亲属29例），83例散发性脑梗死患者及100名健康对照的apoB基因G12669A多态性；并采用氧化酶法测定血清甘油三酯（TG）、总胆固醇（TC）、高密度脂蛋白（HDL）、低密度脂蛋白（LDL），酶联免疫吸附法测定脂蛋白（a）浓度，免疫比浊法测定apoB-100及apoAI浓度。结果（1）家系组脑梗死患者及其Ⅰ级、Ⅱ级、Ⅲ级亲属、散发脑梗死组与对照组叩0B基因G12669A位点A等位基因频率分别为0．106、0．081、0．036、0．034、0．090、0．045。（2）家系组脑梗死患者A等位基因频率明显高于对照组（P〈0．05），其他各组与对照组比较差异均无统计学意义（均P〉0．05）。（3）脑梗死患者中，G／A基因型的TC、TG、LDL—C较G／G型显著增高，而HDL—C则显著降低（P〈0．05）。结论apoB基因G12669A多态A等位基因可能是有家族聚集现象脑梗死的易感因素，并可能通过影响脂质代谢而起作用，

Objective To explore the relationship between apolipoprotein B （apoB） gene G12669A polymorphism and cerebral infarction with family history, and to evaluate the effect of G12669A polymorphism on plasma lipid levels. Methods Peripheral blood samples were collected from 147 members of 15 cerebral infarction families, including 47 cerebral infarction patients with positive family history （ CIFH-P）, 43 firstdegree relatives （ CIFH- Ⅰ ） , 28 second-degree relatives （ CIFH- Ⅱ ） , and 29 third-degree relatives （ CIFH- Ⅲ ）, 83 sporadic cerebral infarction （SCI） patients, and 100 healthy controls. Polymerase chain reaction- restriction fragment length polymorphism was used to detect the apoB gene G12669A polymorphism. Oxidase method was used to detect the levels of triglyceride （TG）, total cholesterol （TC）, high-density lipoprotein （ HDL）, and low-density lipoprotein （LDL）. The serum levels of lipoprotein （a） [ LP（a） ], apoB-100, and apoAI were determined by immune method. Results （ 1 ） The frequencies of A allele in the CIFH-P, CIFH-Ⅰ , CIFH-Ⅱ , CIFH-Ⅲ, and SCI groups patients and control group were 0. 106, 0. 081, 0.036, 0. 034, 0. 090, and 0. 045 respectively, that of the CIFH-P group being significantly higher than that of the control group （ P 〈 0.05 ） , and those of the CIFH- Ⅰ , CIFH- Ⅱ , CIFH-Ⅲ, and SCI groups not being significantly different from that of the control group. （2） In both CIFH-P and SCI groups, the TC and LDL- C levels of the patients with G/A gene type were significantly higher than those of the G/G gene type, while the HDL-C level of the patients with G/A gene type was significantly lower than that of the G/G gene type （ all P 〈 0. 05 ） . Conclusion A allele in G12669A polymorphism may be one of the genetic factors influencing the susceptibility to CI in the individuals with a positive family history, and it may play its role through its influence on the blood lipid levels.