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
Chinese Journal of Nervous and Mental Diseases(2014)
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(ce-rebral 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。
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关键词
Platelet-activating factor acetylhydrolase,Gene polymorphism,Cerebral artery atherosclerosis ste-nosis,Cerebral infarction,Cerebral digital subtraction angiography
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