Relationship between a novel polymorphism of lipoprotein lipase gene and coronary heart disease  

脂蛋白脂酶基因多态性与冠心病关系的研究(英文)

作　　者：苏智广[1] 张思仲[1] 候一平 张立[2] 廖林川 肖翠英[1] 

机构地区：[1]Department of Medical Genetics,West China Hospital,West China Medical Center,Sichuan University,Chengdu 610041,China [2]Institute of Forensic Medicine,West China Medical Center,Sichuan University,Chengdu 610041,China [3]Department of Cardiology,West China Hospital,West China Medical Center,Sichuan University,Chengdu 610041,China

出　　处：《Chinese Medical Journal》2002年第5期677-680,147-148,共4页中华医学杂志（英文版）

基　　金：ThisworkwassupportedbythegrantsfromtheNationalNaturalScienceFoundationofChina (No 3999342 0 )

摘　　要：OBJECTIVE: To investigate polymorphisms in the gene for lipoprotein lipase (LPL) in Chinese populations with coronary heart disease (CHD) and to inquire into the relationship between these polymorphisms in LPL gene and CHD. METHODS: Genomic DNA was extracted from patients with CHD and normal control subjects using a salting out method. The entire coding region and flanking sequences of all coding exons of the LPL gene were amplified by PCR technique and PCR products were detected by denaturing high-performance liquid chromatography (DHPLC) and sequenced with a dideoxy terminal termination method. RESULTS: A novel polymorphic site, G830A, that is within the fifth exon of the LPL gene was found. The 192 codon CGA was changed into CAA and resulted in the substitution of glutamine for arginine. Between the control and CHD groups, chi-square test showed no significant difference in the frequencies of the A/A genotype and A allele (P > 0.05). However, the frequencies of A/A genotype and A allele (0.653 and 0.786) in CHD patients with high plasma triglyceride/lowed plasma high density lipoprotein cholesterol were higher than those (0.415 and 0.642) in CHD patients without hyperlipidemia (P Gln substitution polymorphism and CHD, but there is a significant positive correlation between the A/A genotype of the LPL gene and CHD associated with high triglyceride/lowed high density lipoprotein cholesterol. This study may provide new data for exploring the molecular mechanism of CHD.探讨脂蛋白脂酶基因的多态性与冠心病的相关性。方法　提取冠心病群体和正常群体的基因组DNA ,借助聚合酶链反应扩增LPL基因的 9个外显子及其侧翼的内含子序列 ,采用变性高效液相色谱技术对扩增的片段进行了筛查 ,并用双脱氧末端终止法对扩增的片段进行了DNA序列检测。结果　在LPL基因第 5外显子发现了一未见文献报道的多态位点 ,即G830→A转换 ,该变异导致LPL基因第 192位的Arg(CGA)被Gln(CAA)取代。经χ2检验 ,由此多态产生的基因型A/A和等位基因A在对照组和冠心病组之间没有显著性差异 (P >0 0 5 )。对冠心病患者组进一步采用 χ2检验 ,发现A/A基因型和A等位基因在合并有高甘油三酯 /低高密度脂蛋白胆固醇血症的患者组和血脂正常的患者组之间存在显著性差异 (P <0 0 5 )。结论　首次发现了LPL基因G830A的多态性 ,该多态性 (Arg192Gln)可能影响LPL的酶活性 ,导致高甘油三酯 /低高密度脂蛋白胆固醇血症。该发现可能为探讨冠心病发病的分子机理有重要价值。

关 键 词：Alleles APOLIPOPROTEINS Chromatography  High Pressure Liquid Coronary Disease DNA DNA Mutational Analysis Gene Frequency Humans HYPERTRIGLYCERIDEMIA Lipoprotein Lipase LIPOPROTEINS Lipoproteins  HDL Cholesterol Polymorphism  Genetic Research Support  Non-U.S. Gov't 

分 类 号：R541.4[医药卫生—心血管疾病]