乙醛脱氢酶2基因多态性与急性脑梗死的相关性研究  

Association study between aldehyde dehydrogenase 2 gene polymorphism and acute cerebral infarction

作　　者：司英丽 张冬青 SI Yingli;ZHANG Dongqing(Department of Clinical Laboratory,the Fourth Medical Center of PLA General Hospital,Beijing 100048,China)

机构地区：[1]中国人民解放军总医院第四医学中心检验科,北京100048

出　　处：《检验医学与临床》2023年第22期3332-3335,共4页Laboratory Medicine and Clinic

摘　　要：目的探讨乙醛脱氢酶2(ALDH2)基因多态性与急性脑梗死(ACI)的相关性,同时观察不同病灶大小ACI患者4-羟基壬烯醛(4-HNE)水平。方法选取该院2019年8月至2021年8月收治的130例ACI患者作为ACI组,根据头颅CT或MRI检查结果所示病灶大小将ACI组进一步分为腔隙性脑梗死组(33例)、小梗死组(41例)和大梗死组(56例)。另选取同期130例体检健康者为对照组,采用聚合酶链反应-荧光探针法对ACI组与对照组人群ALDH2基因位点的多态性进行定性检测。比较ACI组与对照组,以及不同病灶大小ACI患者血清4-HNE水平。结果ACI组ALDH2突变基因型AA比例高于对照组,差异有统计学意义(χ^(2)=4.599,P<0.05)。ACI组A等位基因频率(29.6%,77/260)高于对照组的21.5%(56/260),差异有统计学意义(χ^(2)=4.455,P=0.035)。大梗死组ALDH2突变基因型AA比例高于腔隙性脑梗死组,差异有统计学意义(P<0.05)。大梗死组A等位基因频率(35.7%,40/112)高于腔隙性脑梗死组的21.2%(14/66),差异有统计学意义(χ^(2)=4.133,P<0.05)。ACI组4-HNE水平为(17.79±7.62)ng/mL,高于对照组的(11.83±7.52)ng/mL,差异有统计学意义(t=6.348,P<0.05);腔隙性脑梗死组4-HNE水平为(16.29±8.71)ng/mL,低于小梗死组的(18.30±5.27)ng/mL和大梗死组的(18.31±8.36)ng/mL,差异均有统计学意义(t=-1.225、-1.187,P<0.05)。ACI组中ALDH2基因纯合突变基因型AA患者血清4-HNE水平为(32.65±6.44)ng/mL,高于纯合野生型GG患者的(13.24±3.25)ng/mL和杂合基因型GA患者的(19.89±2.39)ng/mL,差异有统计学意义(t=11.228、6.670,P<0.05)。结论ALDH2基因多态性与ACI的发生密切相关,血清4-HNE水平升高会加大ACI的发病风险。Objective To investigate the correlation between aldehyde dehydrogenase 2(ALDH2)gene polymorphism and acute cerebral infarction(ACI),and to observe the concentration of 4-hydroxynonenal(4-HNE)in patients with different lesion size.Methods A total of 130 patients with ACI admitted to the Fourth Medical Center of PLA General Hospital from August 2019 to August 2021 were selected as the ACI group,according to the lesion size of head CT or MRI,the ACI group was further divided into lacunar infarction group(33 cases),small infarction group(41 cases)and large infarction group(56 cases),and 130 healthy people in the same period were selected as the control group.Polymerase chain reaction-fluorescence probe method was used to detect the polymorphism of ALDH2 gene locus in the ACI group and control group.The serum 4-HNE level between ACI group and control group,patients with different lesion size was compared.Results The proportion of ALDH2 mutant genotype AA in ACI group was higher than that in control group,the difference was statistically significant(χ^(2)=4.599,P<0.05).The frequency of A allele in the ACI group(29.6%,77/260)was higher than that in the control group(21.5%,56/260),the difference was statistically significant(χ^(2)=4.455,P=0.035).The proportion of ALDH2 mutant genotype AA in the large infarction group was higher than that in the lacunar infarction group,the difference was statistically significant(P<0.05).The frequency of A allele in the large infarction group(35.7%,40/112)was higher than that in the lacunar infarction group(21.2%,14/66),the difference was statistically significant(χ^(2)=4.133,P<0.05).The level of 4-HNE in ACI group[(17.79±7.62)ng/mL]was higher than that in control group[(11.83±7.52)ng/mL],the difference was statistically significant(t=6.348,P<0.05).The level of 4-HNE in lacunar in-farction group[(16.29±8.71)ng/mL]was lower than that in small infarction group[(18.30±5.27)ng/mL]and large infarction group[(18.31±8.36)ng/mL],the differences were statistically significant(t=-1.225,-1

关 键 词：急性脑梗死 乙醛脱氢酶2 基因多态性 4-羟基壬烯醛 

分 类 号：R743.3[医药卫生—神经病学与精神病学]