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载脂蛋白E基因型及启动子区多态性与颅脑损伤病情发展的相关性研究 被引量:10

Correlation of apolipoprotein E genotype and promoter polymorphisms with status of traumatic brain injury.
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摘要 目的探讨在中国人群中载脂蛋白E(APOE)基因多态性及启动子区多态性与颅脑损伤病情发展的相关性。方法收集110例颅脑损伤患者的临床资料,每对象抽取静脉血2mL,提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测APOE基因及启动子区多态性,分型结果与临床资料等分别采用SPSS11.5软件进行2检验和Logistic回归分析。结果在17例APOEε4等位基因携带者中有7例病情加重,明显高于非ε4等位基因携带者(P<0.05);单因素和多因素Logistic回归分析均提示ε4是病情加重的危险因素。进一步对APOE基因启动子区多态性分型,发现启动子区多态性在颅脑损伤病情加重方面无统计学意义(P>0.05),但调整其余相关因素后,Logistic回归分析提示ε4仍为病情加重危险因素,同时,-491AA也为病情加重危险因素(OR=11.681,P=0.009,95%CI1.824~74.790),此外,饮酒及伤情也为病情加重危险因素。结论在本研究的中国人群中,APOEε4等位基因是颅脑损伤患者病情加重的危险因素。启动子区-491A/T多态性也为颅脑损伤病情加重危险因素,但是并非独立危险因素。 Objective To investigate the correlation of apolipoprotein E genotype and promoter polymorphisms with condition of patients with traumatic brain injury in a group of Chinese. Methods Venous blood was collected at the time of admission to determine the APOE genotype and promoter polymorphisms in 110 Chinese patients who suffered from traumatic brain injury. The APOE polymorphisms (ε2, ε3,ε4) and promoter polymorphisms were determined by PCR-RFLP. Z2 test and logistic regression analysis were performed with SPSS version 11.5. Results In 110 Chinese patients, the distribu- tions of APOE genotypes and alleles matched Hardy-Weinberg Law. Seven of 17 patients with APOEε4 had a deteriorated condition which was significantly different from those without APOEε4 (12/93, P 〈 0.05 ). However, neither the presence of ε2 nor of ε3 was significantly different from those absent of it ( P 〉 0. 05 ). Logistic regression analysis showed that APOEε4 was a risk factor ( OR = 4. 725 ,P = 0. 010, 95% CI 1.511 - 14. 780) to predispose aggravation after adjusting for patient age, injury severity and injury mechanism etc. No differences in APOE promoter genotypic distribution were observed in patient's condition (P 〉 0. 05 ). But after adjustment for patient age, injury severity and injury mechanism etc. , logistic regression analysis showed that -491AA was a risk factor( OR = 11. 681, P = 0. 009, 95% CI 1. 824 - 74. 790) besides APOEε4. Traumatic condition and alcohol-drinking were also risk factors. Conclusions Our findings indicated that the patients with APOEe4 predispose to aggravation after head injury. And in the Chinese population, only APOE-491 promoter alleles confer significant risk factor of brain injury, but not an independent risk factor. This may contribute to the poor prognosis after head injury.
出处 《中国神经精神疾病杂志》 CAS CSCD 北大核心 2006年第5期431-435,共5页 Chinese Journal of Nervous and Mental Diseases
基金 重庆市教委科学技术研究项目(编号:040311) 重庆市卫生局重点科研课题资助项目(编号:05-1-017)
关键词 载脂蛋白E 基因多态性 启动子 创伤性脑损伤 APOE Genotype Promoter Traumatic brain injury
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参考文献15

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二级参考文献56

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