PLCL2基因多态性观察及其与大动脉粥样硬化型脑梗死发病关系分析  

Observation of PLCL2 gene polymorphisms and analysis of their relationships with large artery atherosclerotic stroke

作　　者：王晓蓓 谢孟岐 刘梽颍 吴勤奋 张明洋 杨新玲[2] WANG Xiaobei;XIE Mengqi;LIU Zhiyin;WU Qinfen;ZHAN Mingyang;YANG Xinling(Department of Neurology,The Second Affiliated Hospital of Xinjiang Medical University,Xinjiang 830063,China)

机构地区：[1]新疆医科大学第二附属医院神经内科新疆神经系统疾病研究重点实验室,乌鲁木齐830063 [2]新疆医科大学

出　　处：《山东医药》2023年第27期12-16,共5页Shandong Medical Journal

基　　金：新疆维吾尔自治区自然科学基金青年基金项目(2021D01C376)。

摘　　要：目的分析磷脂酰肌醇特异的磷酸酯酶2(PLCL2)rs2014490、rs9824172、rs4685423、rs4618210位点基因多态性及其与大动脉粥样硬化(LAA)型脑梗死发病的关系。方法选取LAA型脑梗死患者105例(病例组),同一时期体检健康者103例(对照组)。采用飞行质谱分析技术检测两组入院外周血PLCL2基因rs2014490、rs9824172、rs4685423、rs4618210位点的基因型,计算基因型频率和相关等位基因频率,并与对照组人群的等位基因频率进行对比。基于遗传模型(共显性模型、显性模型、隐性模型、超显性模型),使用非条件Logistic回归模型分析PLCL2基因的rs2014490、rs9824172、rs4685423、rs4618210位点多态性与LAA型脑梗死发病的关系。结果经Hardy-Wein⁃berg遗传平衡检验,本研究中纳入的人群具有良好群体代表性。PLCL2 rs2014490位点基因型为GG、AG、AA,在病例组中占比分别为29.1%、42.7%、28.2%,对照组中分别为21.5%、52%、26.5%;病例组等位基因G、A基因频率占比分别为50.5%、49.5%,对照组分别为47.5%、52.5%;两组基因型频率及等位基因频率比较,P均>0.05。PLCL2 rs9824172位点基因型为GG、GT、TT,在病例组中占比分别为26.7%、40%、33.3%,对照组中分别为24.3%、50.5%、25.2%;病例组中等位基因G、T频率占比分别为46.7%、53.3%,对照组分别为49.5%、50.5%;两组基因型频率及等位基因频率比较,P均>0.05。PLCL2 rs4685423位点基因型为AA、CA、CC,在病例组中占比分别为28.8%、35.6%、35.6%,对照组中分别为23.8%、51.5%、24.7%;病例组等位基因A、C频率占比分别为46.6%、53.4%,对照组分别为49.5%、50.5%;两组基因型频率及等位基因频率比较,P均>0.05。PLCL2 rs4618210位点基因型为AA、GA、GG,在病例组中占比分别为16.7%、49%、34.3%,对照组分别为22.68%、45.36%、31.96%;病例组等位基因A、G频率占比分别为41.2%、58.8%,对照组分别为45.4%、54.6%;两组基因型频率及等位基因频率比较,P均>0.05。基�Objective To analyze the genetic polymorphisms of phosphatidylinositol-specific phosphodiesterase 2(PLCL2)at rs2014490,rs9824172,rs4685423,and rs4618210 loci and their relationships with large atherosclerotic ar⁃tery(LAA)stroke.Methods The genotypes of PLCL2 gene(rs2014490,rs9824172,rs4685423,and rs4618210)were detected by flight mass spectrometry in 105 patients with LAA stroke(the case group)and 103 healthy subjects in the same period(the control group),and the genotype frequencies and related allele frequencies were calculated;the frequen⁃cy distribution of alleles was compared with that of the control group.Based on genetic model(codominant model,domi⁃nant model,recessive model,and overdominant model),unconditional Logistic regression analysis was used to explore the relationships between rs2014490,rs9824172,rs4685423,rs4618210 polymorphisms of PLCL2 gene and LAA stroke.Re⁃sults According to the Hardy-Weinberg genetic equilibrium test,the population included in this study had good popula⁃tion representativeness.The genotypes of PLCL2 rs2014490 locus were GG,AG,and AA,accounting for 29.1%,42.7%,and 28.2%in the case group,respectively;these three genotypes accounted for 21.5%,52%,and 26.5%in the control group,respectively.G and A gene frequencies accounted for 50.5%and 49.5%in the case group and accounted for 47.5%and 52.5%in the control group,respectively.No significant differences were found in the genotype frequencies or allele frequencies between these two groups(all P>0.05).The genotypes of the PLCL2 rs9824172 locus were GG,GT,and TT,accounting for 26.7%,40%,and 33.3%,in the case group,respectively,and 24.3%,50.5%,and 25.2%in the control group,respectively.G and T gene frequencies accounted for 46.7%,53.3%in the case group,and 49.5%,50.5%,in the control group,respectively.No significant differences were found in the genotype frequencies or allele fre⁃quencies between these two groups(all P>0.05).The genotypes of PLCL2 rs4685423 locus were AA,CA,and CC,ac⁃counting for 28.8%,35.6%,and 35.6%in t

关 键 词：磷脂酰肌醇特异的磷酸酯酶2 基因多态性 脑梗死 大动脉粥样硬化型脑梗死 遗传模型 

分 类 号：R743.33[医药卫生—神经病学与精神病学]