载脂蛋白A5基因-3A/G多态性对血脂代谢及其相关疾病的关系探讨  

Investigation on the relationship of apolipoprotein A5 gene-3A/C polymorphism with blood lipid metabolism and relevant diseases

作　　者：胡雷光[1,2] 朱立岳[1,2] 陈坚[1,2] 王昕蕾[1,2] 楚青[1,2] 

机构地区：[1]上海市静安区中心医院 [2]复旦大学附属华山医院静安分院检验科,上海200040

出　　处：《检验医学》2011年第9期593-597,共5页Laboratory Medicine

基　　金：上海市静安区卫生系统"十;百;千"人才建设工程;学科带头人培养资助项目(200706A004)

摘　　要：目的探讨载脂蛋白A5(apo A5)基因-3A/G单核苷酸多态性(SNP)与血脂代谢及其相关疾病的关系,为临床疾病诊断和早期干预提供实验数据。方法收集232名体检健康的汉族人群及209例冠心病(CHD)、132例糖尿病(DM)、107例脑梗塞(CI)和199例高血压(HTN)患者的血样标本,通过DNA提取、聚合酶链反应(PCR)扩增和DNA测序,检测apo A5基因-3A/G SNP。同时检测三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)等血脂水平,分析其相互之间的关系。结果 AA纯合子占52.5%,AG杂合子占39.7%,GG纯合子占7.8%。A等位基因分布频率为72.4%,G等位基因的分布频率为27.6%。GG基因型与AA型、AG型人群比较,TG和非高密度脂蛋白胆固醇(non-HDL-C)水平增高(P<0.05)、HDL-C水平降低(P<0.05)。对照组与疾病组比较,TG水平在AA和AG基因型中差异有统计学意义(P<0.05);GG基因型中对照组TG水平与疾病组比较差异无统计学意义(P>0.05)。结论 apo A5基因-3A/GSNP对血脂代谢相关疾病的调控主要表现为GG基因型与高TG、低HDL-C和高non-HDL-C显著相关,是导致脂质代谢紊乱的重要候选基因之一。Objective To investigate the relationship of apolipoprotein A5（apoA5） gene-3A/G single nucleotide polymorphism（SNP） with blood lipid metabolism and relevant diseases,and provide the data for the clinical disease diagnosis and early intervention.Methods The blood samples were collected from 232 healthy Han people,209 coronary heart disease（CHD） patients,132 diabetes mellitus（DM） patients,107 cerebral infarction（CI） patients and 199 hypertension（HTN） patients in Shanghai Jing′an District Central Hospital.DNA extraction,polymerase chain reaction（PCR） amplification and DNA sequencing were used to detect apoA5 gene-3A/G SNP.The biochemical analyzers were used to detect the levels of blood lipid such as triglyceride（TG）,total cholesterol（TC）,high density lipoprotein cholesterol（HDL-C） and low density lipoprotein cholesterol（LDL-C）.Their relationship was analyzed statistically.Results AA homozygote,AG heterozygote and GG homozygote were 52.5%,39.7% and 7.8% respectively.The distribution sequences of A and G alleles were 72.4% and 27.6%.Compared the healthy Han people group of GG gene type to ones of AA and AG gene types,TG raised（P0.05）,HDL-C reduced（P0.05） and non-HDL-C（non-HDL-C） raised（P0.05）.Compared the control group to the disease group,the value of TG had statistical significance in the gene types of AA and AG（P0.05）,and the value of TG in the control group of GG gene type raised lightly with no statistical significance（P0.05）.Conclusions The regulation from apoA5 gene-3A/G SNP to the disease of blood lipid metabolism is mainly performed at the relationship between gene type of GG and high level of TG,low level of HDL-C and high level of non-HDL-C.This gene is one of the candidate genes which leads to the disorder of lipid metabolism.

关 键 词：载脂蛋白A5 基因多态性 血脂代谢 

分 类 号：Q503[生物学—生物化学]