载脂蛋白B基因C7673T多态与有家族聚集现象脑出血的关系

目的 探讨载脂蛋白B基因(apolipoprotein B,apo B)C7673T多态与长沙地区汉族人群有家族聚集现象脑出血的关系.方法 采用聚合酶链反应-限制性片段长度多态性分析法和DNA直接测序法检测长沙地区汉族15个有家族聚集现象脑出血家系117名成员、93例散发脑出血患者和100名正常对照者的apoB基因C7673T多态;氧化酶法测定血清甘油三酯、总胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇水平,酶联免疫吸附法测定脂蛋白(a)浓度,免疫比浊法测定apoB100及apoA Ⅰ浓度.结果 (1)家系组脑出血患者组及其Ⅰ、Ⅱ、Ⅲ级亲属组、散发脑出血组和对照组apoB基因C7673T多态T等位基因频率分别为0.176、0.136、0.058、0.048、0.081、0.040.(2)家系组脑出血患者组及其Ⅰ级亲属组apoB基因C7673T多态T等位基因频率显著高于对照组(P＜0.01,P＜0.01),而家系组Ⅱ、Ⅲ级亲属组与对照组相比差异无统计学意义(P＞0.05);家系组脑出血患者组apoB基因C7673T多态T等位基因频率显著高于散发脑出血组(P＜0.05).(3)家系组脑出血患者组及散发脑出血组中,apoB基因C7673T多态TC基因型较CC基因型的总胆固醇、低密度脂蛋白胆固醇显著增高,而高密度脂蛋白胆固醇显著降低(P＜0.05),其它指标差异无统计学意义(P＞0.05).结论 apoB基因C7673T多态T等位基因可能与长沙地区汉族人群有家族聚集现象脑出血有关;apoB基因C7673T多态T等位基因可能通过改变血脂水平影响脑出血的发生发展.

Positive association of apolipoprotein B gene C7673T polymorphism with cerebral hemorrhage with family history

OBJECTIVE: To investigate the relationship between C7673T polymorphism of apolipoprotein B (apoB) and cerebral hemorrhage with family history (CHFH) in Chinese Han in Changsha, Hunan province. METHODS: Fifteen families of CHFH and 93 sporadic cerebral hemorrhage patients and 100 normal controls were collected. The C7673T polymorphism of apoB was analyzed by PCR-restriction fragment length polymorphism and direct DNA sequencing. The triglyceride(TG), total cholesterol(TC), high density lipoprotein-cholesterol (HDL-C) and low density lipoprotein-cholesterol(LDL-C) levels were examined by oxidase method. The serum level of lipoprotein (a) was determined by immune method. RESULTS: (1)The allele T frequencies of apoB C7673T polymorphism in cerebral hemorrhage patients with family history, first-degree relatives, second-degree relatives, third-degree relatives, the sporadic cerebral hemorrhage patients and the control group were 0.176, 0.136, 0.058, 0.048, 0.081 and 0.040, respectively. (2) The allele T frequencies of apoB C7673T polymorphism in CHFH patients and their first-degree relatives were significantly higher than that of the control group (P< 0.01, P< 0.01), while there was no significant difference among second-degree relatives, third-degree relatives and control group (P> 0.05). And the allele T frequency of apoB C7673T in CHFH patients was significantly higher than that of sporadic cerebral hemorrhage patients (P< 0.05). (3)In CHFH patients and sporadic cerebral hemorrhage group, the levels of TC and LDL-C of the TC genotype were significantly higher than those of the CC genotype, while the level of HDL-C in the TC genotype was significantly lower than that of the CC geneotype (P< 0.05). CONCLUSION: (1)The allele T of apoB C7673T polymorphism may be related to cerebral hemorrhage with family history. (2) The allele T of apoB C7673T polymorphism may increase the susceptibility of cerebral hemorrhage by changing blood lipid levels.