肝脂酶-250G/A基因多态性与阿尔茨海默病相关性研究  

Association study of the hepatic lipase gene-250G/A promoter polymorphism and Alzheimer's disease

作　　者：王娟[1] 肖志杰[1] 陈卫蓉[2] 

机构地区：[1]中南大学湘雅二医院神经内科,长沙410011 [2]湖南省长沙市妇幼保健院体检中心

出　　处：《临床精神医学杂志》2012年第6期375-378,共4页Journal of Clinical Psychiatry

基　　金：湖南省科技计划项目(2009FJ3054)

摘　　要：目的:探讨常见肝脂酶启动子基因-250G/A多态性对阿尔茨海默病(AD)患者发病风险及认知功能的影响。方法:采用病例对照研究,随机抽取湖南长沙地区汉族人群104例散发性AD患者(AD组)以及104名认知功能正常者(对照组)为研究对象,应用聚合酶链反应-限制性片段长度多态性方法测定肝脂酶-250G/A基因多态性,采用成人韦氏记忆量表(WMS)及威斯康辛卡片分类测验(WCST)进行认知功能测评。结果:两组间GG、GA及AA3种基因型分布差异有统计学意义(χ2=7.925,P=0.019),其中AD组GG型频率显著高于对照组(27.9%和13.5%;χ2=5.233,P=0.022);GA+AA型频率显著低于对照组(72.1%和86.5%;χ2=6.595,P=0.016);两组间等位基因频率比较差异无统计学意义(χ2=0.731,P>0.05)。肝脂酶A等位基因携带者(GA+AA型)WMS的短时记忆能力得分显著增高(P<0.05),而长时记忆和瞬时记忆能力得分差异无统计学意义(P>0.05)。多因素Logis-tic回归显示,A等位基因是AD的独立保护因素之一。结论:肝脂酶-250G/A遗传变异与AD相关,A等位基因对AD发病及短时记忆功能可能有独立保护作用。Objective：This study aimed to assess the effect of single-nucleotide polymorphism（SNP） in the hepatic lipase（HL） promoter-250G/A on the risk of Alzheimer＇s disease（AD） and cognitive function.Method：Using case-control study,a total of 104 sporadic AD patients and 104 individuals without cognitive impairment from a population of Chinese Han nationality in Changsha area was studied.The polymorphism of LIPC-250G/A was determined by the restriction fragment length polymorphism（RFLP） amplified by polymerase chain reaction（PCR）.The evaluation of cognitive function was tested by Wechsler memory scale（WMS） and Wisconsin card sorting test（WCST）.Results：There were significant differences in the frequencies of three genotypes（GG,GA and AA） between AD patients and controls（χ2=7.925,P=0.019）.The frequency of GG genotype in AD group was obviously higher than that of controls（27.9% and 13.5%;χ2=5.233,P=0.022）.The frequency of GA＋AA genotype in AD patients is significantly lower than that of controls（72.1% and 86.5%;χ2=6.595,P=0.016）.There was no significant difference in the frequency comparison of G allele and A allele（χ2=0.731,P0.05）.Compared with GG genotype,the scores of short-term memory of GA＋AA genotypes were higher（P0.05）,but there was no significant difference in the score of long-term memory and transient memory（P0.05）.Multi-factor logistic regression analysis showed that A allele was one of independent protective factors for AD.Conclusion：The genetic variation in hepatic lipase-250G/A was associated with AD,and A allele may provide a protective effect on the incidence of AD and short-term memory level.

关 键 词：阿尔茨海默病 肝脂酶 单核苷酸多态性 血脂 

分 类 号：R749.1[医药卫生—神经病学与精神病学]