贵州地区105例血脂异常人群ApoE和SLCO1B1基因多态性及血脂特征分析  

Analysis of ApoE and SLCO1B 1 gene polymorphism and blood lipid characteristics in 105 patients with dyslipidemia in Guizhou

作　　者：骆姝琳[1] 任凌雁[1] 陈琨[1] 令狐克燕 卓召振 靳倩 安宇[2] 黄盛文[1] LUO Shulin;REN Lingyan;CHEN Kun;LINGHU Keyan;ZHUO Zhaozhen;JIN Qian;AN Yu;HUANG Shengwen(Antenatal Diagnosis Centre,Guizhou Provincial People's Hospital,Guiyang 550002,Guizhou,China;Center Lab,Guizhou Provincial People's Hospital,Guiyang 550002,Guizhou,China)

机构地区：[1]贵州省人民医院产前诊断中心,贵州贵阳550002 [2]贵州省人民医院中心实验室,贵州贵阳550002

出　　处：《贵州医科大学学报》2022年第2期155-162,共8页Journal of Guizhou Medical University

基　　金：贵州省科技厅科技计划项目(黔科合LH字〔2016〕7191);贵州省遗传病诊断与发病机制研究科技创新人才团队(黔科合平台人才〔2020〕5011)。

摘　　要：目的探讨105例贵州地区血脂异常人群载脂蛋白E(ApoE)和溶质载体有机阴离子转运蛋白家族1B1(SLCO1B1)基因多态性特点及血脂特征。方法选取贵州地区就诊的血脂异常患者105例,采用全自动生化分析仪检测血清总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白A1(Apo-A1)及载脂蛋白B(Apo-B),分析血脂异常人群性别差异和血脂异常类型差异,采用连接酶测序技术检测全血ApoE[c.388T>C(Cys130Arg)和c.526C>T(Arg176Cys)]和SLCO1B1基因位点[c.521T>C(Val174Ala)和c.388A>G(Asn130Asp)]的多态性;收集“The 1000 Genomes Project”中千人基因组南方人群数据与105例贵州地区血脂异常人群比较,分析基因多态性位点分布频率。结果贵州地区血脂异常人群中,女性血清TC、HDL-C、Apo-A1水平高于男性(P<0.05);贵州地区血脂异常人群中,男性和女性ApoE 526C>T位点基因型频率及等位基因频率比较,差异有统计学意义(P<0.05);贵州地区血脂异常人群中,男性和女性ApoE各基因表型组E2、E3、E4比较,差异有统计学意义(P<0.05);贵州地区血脂异常人群中,男性和女性SLCO1B1 388A>G位点基因型频率及等位基因频率比较,差异有统计学意义(P<0.05);贵州地区血脂异常人群中,男性和女性SLCO1B1各基因表型组Ⅰ类、Ⅱ类、Ⅲ类比较,差异无统计学意义(P>0.05);贵州地区血脂异常人群和普通人群ApoE 526C>T位点基因型频率比较,差异有统计学意义(P<0.05);贵州地区血脂异常人群ApoE基因E2型者TG、TC、HDL-C及Apo-A1水平均高于E4型,其中TG指标比较、差异有统计学意义(P<0.05)。结论105例贵州地区血脂异常人群中,女性血脂水平高于男性;ApoE基因分布以E3型最高、E2型最低,男性E4型比例高于女性,E2型人群总体血脂水平高于E4型;SLCO1B1各基因型分布无性别差异。Objective To explore the characteristics of polymorphism of apolipoprotein E(ApoE),solute carrier organic anion transporter family 1B1(SLCO1B1)gene and characteristics of blood lipid in 105 patients with dyslipidemia in Guizhou.Methods A total of 105 patients with dyslipidemia in Guizhou were selected.Serum total cholesterol(TC),triglycerides(TG),high-density lipoprotein cholesterol(HDL-C),and low-density lipoprotein cholesterol(LDL-C),Apolipoprotein A1(Apo-A1)and Apolipoprotein B(Apo-B)were detected by the automatic biochemical analyzer.The gender and type differences of the above indicators in the cases with dyslipidemia were analyzed.The polymorphism of ApoE[c.388T>C(Cys130Arg)and c.526C>T(Arg176Cys)]and SLCO1B1[c.521T>C(Val174Ala)and c.388A>G(Asn130Asp)]of whole blood were detected by ligase sequencing technology.The blood lipid characteristics of patients with dyslipidemia in Guizhou were analyzed.Differences in blood lipid levels and abnormal types between different genders were compared.Data of the genomes of the southern population from"The 1000 Genomes Project"were collected and compared with the data of the 105 patients with dyslipidemia in Guizhou erea,and the distribution frequency of genetic polymorphism was analyzed.Results The serum levels of TC,HDL-C,and Apo-A1 in female cases with dyslipidemia in Guizhou China were higher than those in male cases,and the difference was statistically significant(P<0.05);The genotype and allele frequency of ApoE 526C>T in the patients with dyslipidemia in Guizhou area were significantly different between different genders(P<0.05).The difference of E2,E3,E4 between different genders among the three genotype groups had statistical significance(P<0.05).The genotype and allele frequencies of SLCO1B1 388A>G were significantly different between different genders(P<0.05);There was no significant difference in gender among the three genotype groups:Ⅰ,ⅡandⅢ(P>0.05).The frequency of ApoE 526C>T was compared between the dyslipidemia population and the general population

关 键 词：血脂异常 血脂水平 APOE基因 SLCO1B1基因 基因多态性 贵州 

分 类 号：R540[医药卫生—心血管疾病]