冠心病患者载脂蛋白A5和载脂蛋白C3基因多态性的研究  

Polymorphsims in the apolipoprotein A5 gene and apolipoprotein C3 gene in patients with coronary artery disease

作　　者：毕楠[1] 鄢盛恺[2] 李国平[1] 尹志农[3] 薛红[1] 吴刚[1] 陈保生[1] 

机构地区：[1]中国医学科学院中国协和医科大学基础医学研究所,100005 [2]北京协和医院检验科 [3]北京垂杨柳医院检验科

出　　处：《中华心血管病杂志》2005年第2期116-121,共6页Chinese Journal of Cardiology

基　　金：国家"973"资助项目(G2000056902)

摘　　要：目的研究中国北方汉族人群中载脂蛋白A5基因(APOA5)-1131T/C、56C/G多态性和载脂蛋白C3基因(APOC3)-482C/T多态性与冠心病的关系.方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)结合聚丙烯酰胺凝胶电泳(PAGE)技术检测了312例经冠状动脉造影确诊的冠心病患者和317例健康对照者APOA5 -1131T/C、56C/G和 APOC3 -482C/T多态性基因型和等位基因的分布,同时采用生化方法检测了研究对象的血脂水平.结果冠心病组APOA5 -1131C等位基因频率明显高于对照组(39.9%比33.3%,P=0.02).CC纯合子患冠心病的风险是TT纯合子的1.93倍(95%CI: 1.12～3.32),且通过Logistic 回归分析发现该相关性独立于性别、年龄、体重指数、吸烟史、高血压糖尿病患病史及血清TC、HDL-C、LDL-C水平;冠心病组CC纯合子的TG水平明显高于TC杂合子,而TT纯合子TG水平最低.虽然APOA5 -1131T/C和 APOC3 -482C/T多态性存在连锁不平衡,但前者的作用与后者无关.结论 APOA5 -1131T/C基因多态性对人群血清TG水平有影响,APOA5 -1131C等位基因可能与我国北方汉族人冠心病的发生相关联.Objective To investigate the association between the 1131T/C and 56C/G polymorphism in the APOA5 gene as well as the 482C/T in the APOC3 gene and susceptibility to coronary artery disease (CAD) in a Chinese Han population Methods Using polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) and polyacrylamidedel electrophoresis (PAGE) methods, we analyzed the genotypes in 312 CAD patients diagnosed by angiography and 317 healthy controls The levels of serum lipid profiles were also studied by biochemical methods Results The frequency of the APOA5 1131 C allele in CAD patients was significantly higher than that of the control group (39 9% vs 33 3%, P =0 02) Compared with the wild type TT, CC homozygotes had a significantly increased CAD risk ( OR =1 93 and OR =1 80 using unadjusted and adjusted logistic regression models, respectively) This association still existed after adjustment for the APOC3 482 variant The APOA5 1131C allele also showed a correlation with increasing plasma TG levels ( P <0 01) Conclusions The APOA5 1131T/C polymorphism but not APOC3 482C/T might contribute to an increased risk of CAD among Chinese accompanied by an elevation of serum TG levels; this effect was found to be independent of the APOC3 482C/T variant

关 键 词：冠心病患者 载脂蛋白A TG 基因多态性 纯合子 血清 等位基因 载脂蛋白C 北方汉族 生化方法 

分 类 号：R541.4[医药卫生—心血管疾病] R446[医药卫生—内科学]