APOLIPOPROTEIN B-GENE DNA POLYMORPHISMS ASSOCIATED WITH MYOCARDIAL-INFARCTION
APOLIPOPROTEIN B-GENE DNA POLYMORPHISMS ASSOCIATED WITH MYOCARDIAL-INFARCTION
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DOI：
10.1056/nejm198612113152403
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发表时间：
1986-12-11
影响因子：
158.5
通讯作者：
BRESLOW, JL
中科院分区：
文献类型：
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作者：
HEGELE, RA;HUANG, LS;BRESLOW, JL
载脂蛋白B（低密度脂蛋白的蛋白质组分）的水平与冠心病的风险相关。我们通过研究84例心肌梗死患者和相同数量的匹配对照的载脂蛋白B基因限制性片段长度多态性，来检测载脂蛋白B的遗传变异是否与心肌梗死相关。DNA用XbaI和EcoRI内切酶消化后，用载脂蛋白B基因探针进行Southern印迹分析，发现我们分别命名为X1、X2和X3以及R1和R2的等位基因。用内切核酸酶Mspl的类似研究揭示了许多不同大小的等位基因（差异是由于插入-缺失多态性），我们将其分为较大和较小的等位基因，并分别命名为ID 1和ID 2。病例组X1、R1和ID 1等位基因频率均显著高于对照组（P < 0.01）。然而，没有一个等位基因与低密度脂蛋白胆固醇或载脂蛋白B水平的变化显著相关，因此这些等位基因的功能重要性尚不确定。尽管如此，除了血浆载脂蛋白B水平的定量变化外，载脂蛋白B基因座的遗传变异可能是心肌梗死的一个新的独立危险因素。
Levels of apolipoprotein B, the protein component of low-density lipoproteins, correlate with the risk of coronary heart disease. We examined whether genetic variation in apolipoprotein B is associated with myocardial infarction by studying apolipoprotein B-gene restriction-fragment-length polymorphisms in 84 patients with myocardial infarction and an equal number of matched controls. Southern blot analysis with apolipoprotein B-gene probes, performed after DNA was digested with the endonucleases Xbal and EcoRI, revealed alleles that we designated as X1, X2, and X3 and as R1 and R2, respectively. Similar studies with the endonuclease Mspl revealed alleles of many different sizes (the difference was due to an insertion-deletion polymorphism), which we grouped as larger and smaller alleles and designated as lD1 and lD2, respectively. The frequencies of the X1, R1, and lD1 alleles were all significantly higher (P < 0.01) in the cases than in the controls. None of the alleles, however, was significantly associated with variation in levels of low-density lipoprotein cholesterol or apolipoprotein B, and the functional importance of these alleles is therefore uncertain. Nonetheless, in addition to quantitative variation in apolipoprotein B levels in plasma, genetic variation in the apolipoprotein B locus may be a new and independent risk factor for myocardial infarction.