血小板活化因子乙酰水解酶基因多态性与脑动脉粥样硬化性狭窄的关联性研究  

A cross-sectional study on the association between platelet-activating factor acetylhydrolase gene polymorphism and cerebral artery atherosclerotic stenosis

作　　者：曹裕民[1,2] 张雄[1] 龙隆[1] 万鑫[1] 王硕[1] 代成波[1] 马桂贤[1] 杨哲贤[1] 马腾云[1] 张玉虎[1] 王丽娟[1] 

机构地区：[1]广东省人民医院(广东省医学科学院)神经内科,广州510080 [2]汕头大学医学院在读硕士研究生

出　　处：《中国神经精神疾病杂志》2014年第3期138-142,共5页Chinese Journal of Nervous and Mental Diseases

基　　金：广东省科技计划项目(编号:2012B031800410)

摘　　要：目的研究血小板活化因子乙酰水解酶(platelet-activating factor acetylhydrolase,PAF-AH)基因Arg92His(4,275;G→A)、Ile198Thr(7,593;T→C)、Val279Phe(9,994;G→T)突变与脑动脉粥样硬化性狭窄(cerebral artery atherosclerotic stenosis,CAAS)及狭窄颅内外分布的关系。方法 642例行全脑血管数字减影造影(cerebral digital subtraction angiography,DSA)检查的患者,根据狭窄程度,分为脑动脉狭窄(CAAS)组477例和对照组156例,CAAS组进一步分为3个亚组,单纯颅内动脉狭窄(intracranial atherosclerotic stenosis,ICAS)组,单纯颅外动脉狭窄(extracranial artery atherosclerotic stenosis,ECAS)组,颅内外动脉联合狭窄(intracranial-extracranial artery atherosclerotic stenosis,IECAS)组。比较Arg92His、Ile198Thr、Val279Phe突变基因型及等位基因频率在各组的分布。结果 Arg92His突变基因型及等位基因频率,在ICAS组显著高于对照组(42.6%vs.30.3%;23.3%vs.16.4%)(P<0.05),而ECAS组、IECAS组突变基因型频率(28.7%,26.1%)及突变等位基因频率(17.0%,15.3%)与对照组比较,差异无统计学意义(P>0.05)。Ile198Thr、Val279Phe突变基因型及等位基因频率在ICAS组、ECAS组、IECAS组与对照组比较,差异均无统计学意义(P>0.05)。CAAS组与对照组比较,Arg92His、Ile198Thr、Val279Phe突变基因型及等位基因频率差异无统计学意义(P>0.05)。结论 Arg92His位点突变可能参与了颅内动脉粥样硬化性狭窄的发生。Objective To investigate the relationship between platelet-activating factor acetylhydrolase gene Arg92His（4, 275; G→A）, lle198Thr（7, 593; T→C） and Val279Phe（9, 994; G→T） mutation and cerebral artery athero- sclerosis stenosis. Methods Six hundred forty-twopatients with cerebral infarction underwent cerebral digital subtrac- tion angiography （DSA）.The patients were then divided into cerebral artery atherosclerosis stenosis （CAAS） group（n= 477） and control group（n=81） aceroding to the site and severity of their cerebral artery stenosis. Furthermore, the CAAS group were divided into intracranial artery stenosis（ICAS） subgroup（n=251）, extracranial artery stenosis（ECAS） subgroup （n=l15） and extracranial-intracerebral artery stenosis（ECAS） subgroup（n=lll）. The distributions of genotype and allele frequencies of Arg92His, Ile 198Thr and Va1279Phe mutation of platelet-activating factor acetylhydrolase gene were ex- amined and comparied in different groups. Results There were significant differences in the distributions of genotype and allele of Arg92His mutation between ICAS subgroup and control group （42.6% vs. 30.3%; 23.3% vs. 16.4%, P 〈 0.05）. These associations were not detected in ECAS and IECAS subgroups. There was no significant association be- tween Ile198Thr and Va1279Phe and stenosis at any site（P 〉0.05）. The distributions of genotype and allele of Arg92His, Ile198Thr and Va1279Phe mutation were no significantly difference between CAAS group and control group （P 〉0.05）. Conclusions Arg92His mutation may be associated with intracranial artery atherosclerotic stenosis.

关 键 词：血小板活化因子乙酰水解酶 基因多态性 脑动脉粥样硬化性狭窄 脑梗死 脑血管造影 

分 类 号：R743.3[医药卫生—神经病学与精神病学]