载脂蛋白B100基因、低密度脂蛋白受体基因和枯草溶菌素转化酶9基因多态性与急性缺血性脑卒中伴脂代谢异常人群的相关性研究  

Study on association in apolipoprotein B100 gene,low density lipoprotein receptor gene and proprotein convertase subtilisin kexin-9 gene genetic polymorphisms in acute ischemic stroke patients with abnormal lipid metabolism

作　　者：魏建刚[1] 张倩[1] 孙薇[1] 杨建波[1] 汪毅明 林晓静[1] 李慧萍[1] 徐金凤[1] 王蓉[1] 韩佳容 张小宁[1] WEI Jian-gang;ZHANG Qian;SUN Wei(Department of Neurology,Xinjiang Medical University Affiliated Hospital of Traditional Chinese Medicine,Urumqi 830000,China)

机构地区：[1]新疆医科大学附属中医医院脑病二科,乌鲁木齐830000

出　　处：《临床神经病学杂志》2022年第2期106-112,共7页Journal of Clinical Neurology

基　　金：新疆维吾尔自治区自然科学基金面上项目(2018D-01C280)。

摘　　要：目的探讨载脂蛋白B100(ApoB100)基因、低密度脂蛋白受体(LDLR)基因和枯草溶菌素转化酶9(PCSK9)基因不同单核苷酸多态性(SNP)位点基因型和等位基因与急性缺血性脑卒中(AIS)、血脂异常之间的关联性和临床意义。方法选择在我院神经内科住院的急性缺血性脑卒中合并脂代谢异常的患者60例为病例组,60名我院体检中心健康体检者为对照组。采用PCR方法检测ApoB100、LDLR、PCSK9基因不同SNP位点的信息。分析两组ApoB100、LDLR、PCSK9基因不同SNP位点的基因型和等位基因的表达情况及其与血脂的关系。结果LDLR基因rs1433099和PCSK9基因rs17111503位点在两组人群中存在基因多态性。LDLR基因rs1433099等位基因A为AIS发病的危险因素(OR=2.677,P<0.05)。PCSK9基因rs17111503等位基因A为急性缺血性脑卒中发病的危险因素(OR=2.486,P<0.05)。rs1433099和rs17111503等位基因GA+AA型患者血清低密度脂蛋白水平均明显高于GG型(均P<0.05)。结论ApoB100基因rs693、LDLR基因rs5925、PCSK9基因rs2479408、rs529787与AIS患病风险无关。LDLR基因rs1433099和PCSK9基因rs17111503的等位基因A是AIS发病的危险因素,且与脂代谢异常有关。Objective To investigat the association and clinical significance of genotypes and alleles of different single nucleotide polymorphism(SNP)of apolipoprotein B100(ApoB100)gene,low density lipoprotein receptor(LDLR)gene,proprotein convertase subtilisin kexin-9(PCSK9)gene with acute ischemic stroke(AIS)and dyslipidemia.Methods Sixty cases of acute ischemic stroke patients with abnormal lipid metabolism in neurology department of our hospital were selected as the case group,and sixty cases of health examiners in the outpatient physical examination center of our hospital were selected as the control group.The PCR method was used to detect the information of different SNP loci in ApoB100,LDLR,and PCSK9 genes.The relationship between genotype and allele expression and lipid profiles of different SNP loci of ApoB100,LDLR and PCSK9 genes was analyzed.Results The LDLR gene rs1433099 and the PCSK9 gene rs17111503 locus present in both groups of people.LDLR gene rs1433099 allele A was a risk factors for the development of the ischemic stroke(OR=2.677,P<0.05).PCSK9 gene rs17111503 allele A was a risk factors for the development of the ischemic stroke(OR=2.486,P<0.05).The serum levels of low density lipoprotein with patients in the rs1433099 and rs17111503 alleles GA+AA were significantly higher than those in the GG group(all P<0.05).Conclusions ApoB100 gene rs693,LDLR gene rs5925,PCSK9 gene rs2479408,rs529787 are not associated with the risk of AIS.Allele A of the LDLR gene rs1433099 and the PCSK9 gene rs17111503 is a risk factor for the development of AIS and is associated with abnormal lipid metabolism.

关 键 词：载脂蛋白B100 低密度脂蛋白受体抗体 枯草溶菌素转化酶9 急性缺血性脑卒中 脂代谢紊乱 单核苷酸多态性 

分 类 号：R743.3[医药卫生—神经病学与精神病学]