潮汕人群自发性深部脑出血与载脂蛋白E基因多态性的关系

摘要

目的 探讨在潮汕人群中载脂蛋白E (apolipoprotein E,APOE)基因多态性与自发性深部脑出血(spontaneous deep intracerebral hemorrhage,SDICH)的关系.方法 收集297例潮汕地区SDICH病人作为研究组(n=297),同时选取性别、年龄与研究组相匹配的201例轻度颅脑损伤病人作为对照组(n=201).收集两组病人的基本资料及病史,同时检测血脂水平.应用高分辨熔解曲线分析法(high-resoluation melting assay,HRM)检测APOE基因型并行测序验证.结果 与对照组相比,研究组病人饮酒史多见(P=0.000),收缩压及舒张压明显升高(P=0.000).HRM法检测APOE基因型与测序结果一致.潮汕人群中APOE基因以ε3/ε3型最常见,占76.6％ (154/201),其余分别为ε3/ε2型10.45％ (21/201)、ε3/ε4型9.95％ (20/201)、ε2/ε4型1.99％ (4/201)、ε2/ε2型0.50％ (1/201)、ε4/ε4型0.50％ (1/201).与对照组比较,研究组病人ε2/ε2、ε2、ε4的频率较高(P＜0.05),而ε3/ε3和ε3的频率较低(P＜0.05);幕上SDICH病人ε2/ε2、ε2、ε4的频率较对照组高(P＜0.05),而ε3/ε3和ε3的频率较低(P＜0.05);幕下SDICH病人ε4的频率明显高于对照组(P＜0.05).结论 APOE基因ε2和ε4可能是潮汕人群中SDICH的风险因子,而且其携带频率在不同出血部位中也存在差异.%Objective To investigate the relationship between apolipoprotein E (APOE) gene polymorphism and spontaneous deep intraeerebral hemorrhage (SDICH) in Chaoshan population.Methods A sum of 297 SDICH patients in Chaoshan area were seleted as study group,and 201 mild traumatic brain injury patients as control group according to the matching results of gender and age.The high-resoluation melting assay (HRM) was used to detect the A POE genotype,which was confirmed by gene sequencing.Results Compared with control group,the history of alcohol intake was more common and systolic pressure and diastolic pressure were higher in patients of study group (P =0.000).The APOE genotype was consistent with results of HRM and gene sequencing.The rates of all APOE genotypes were ε3/ε3 type of 76.6％(154/201),ε3/ε2 type of 10.45％(21/201),ε3/ε4 type of 9.95％(20/201),ε2/ε4 type of 1.99％(4/201),ε2/ε2 type of 0.50％(1/201) and ε4/ε4 type of 0.50％(1/201).Compare with control group,the frequency of ε2/ε2,ε2 and ε4 in study group were higher (P ＜ 0.05) and the frequency of ε3/ε3 and ε3 were lower (P ＜ 0.05).The frequency of ε2/ε2,ε2 and ε4 were higher and ε3/ε3 and ε3 were lower in supratentorial SDICH patients than control group (P ＜ 0.05).The frequency of ε4 in infratentorial SDICH patients was higher than control group (P ＜ 0.05).Conclusion ε2 and ε4 alleles ofAPOE gene may be the risk factors for SDICH in Chaoshan population and the carrying frequency is different at different hemorrhage sites.