摘要
目的:探讨代谢综合征(metabolicsyndrome,MS)与冠心病(coronaryarterydisease,CHD)的载脂蛋白E(apolipoproteinE,ApoE)基因多态性之间的关联。方法:将203例原发性高血压、糖尿病或原发性高血压合并糖尿病的患者分为代谢综合征组(按WHO定义,MS+,n=96)和非代谢综合征组(MS-,n=107);冠心病组(CHD+,n=84)和非冠心病组(CHD-,n=119);代谢综合征合并冠心病(MS++CHD,n=55)及代谢综合征非合并冠心病组(MS+,n=39)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)确定特定ApoE片段基因型,应用荧光标记自动测序法测定PCR产物,确认单核苷酸多态性(singlenucleotidepolymorphisms,SNPs)位点。结果:(1)MS组ApoEε4等位基因频率高于对照组(15.6%vs8.9%,P=0.038);(2)CHD组ε4等位基因频率显著高于对照组(16.8%vs8.8%,P=0.017);(3)MS+CHD组ε4等位基因频率显著高于对照组(21.8%vs7.3%,P=0.006);与之相反,MS+CHD组ε2等位基因频率显著低于对照组(0.9%vs8.5%,P=0.009)。(4)将PCR扩增产物直接测序,共检出2个SNP,均为T→C碱基转换,分别位于E4/E4PCR扩增产物序列的137和210碱基处。与RFLP法检测ApoE基因型相符。结论:ApoE基因的ε4等位基因是MS、CHD的危险因子,当MS合并CHD时这种趋势更加明显。而ApoE基因的ε2等位基因可能?
Objective To evaluate the relationship of apolipoprotein E(ApoE)gene polymorphism to metabolic syndrome(MS) and coronary artery disease(CHD). Methods Two hundreds and three patients with essential hypertension, diabetes mellitus or essential hypertension complicated with diabetes mellitus were divided into two groups: metabolic syndrome (WHO definition, MS+, n=96) and Non metabolic syndrome (MS-, n=107);coronary artery disease(CHD+, n=84 )and non coronary artery disease(CHD-, n=119); metabolic syndrome complicated with coronary artery disease(MS++CHD, n=55)and(MS+,n=39). ApoE genetype was determined by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). The sequencing of the PCR product was determined by using fluorescent labeling automatic method to detect single nucleotide polymorphisms (SNPs). Results (1)The frequency of ε4 allele was higher in MS+compared with that in MS-(15.6%vs 8.9%,P=0.038);(2)The frequency ofε4 alleles in the CHD+was significantly higher than that in CHD-(16.8%vs 8.8%,P=0.017);(3)The frequency of ε4 allele was higher in MS+CHD compared with that in MS(21.8%vs 7.3%,P=0.006);on the contrary,The frequency of ε2 allele was lower in MS+CHD compared with that in MS(0.9%vs 8.5%,P=0.009);(4) The sequence of the ApoE gene was used direct sequencing of the PCR products. ApoE gene analysis showed a nucleotide substitution of T to C at the sequence of the PCR products 137 and 210 respectively in exon 3. These mutations were confirmed by the RFLP method. Conclusions It is suggests that ε4 allele tends to increase the risk of MS and CHD, and there is a strong association between the frequency of ε4 allele and MS+CHD. ε2 allele may be a protecting factor of CHD.
出处
《实用医学杂志》
CAS
2005年第1期32-34,共3页
The Journal of Practical Medicine
