Berge K E, Berg K
Institute of Medical Genetics, University of Oslo and Department of Medical Genetics, Ullevål University Hospital, Norway.
Clin Genet. 1997 Dec;52(6):422-6. doi: 10.1111/j.1399-0004.1997.tb02562.x.
The deletion (D) allele of an insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme (ACE) has been reported to be an independent risk factor for myocardial infarction (MI), particularly in people lacking traditional risk factors. Furthermore, a borderline association between Lp(a) lipoprotein level and the I/D polymorphism at the ACE locus was reported in one study. We have searched for possible "level gene" or "variability gene" effects of ACE genes on Lp(a) lipoprotein, total cholesterol (TC), high density lipoprotein (HDL) cholesterol (HDLC), low density lipoprotein (LDL) cholesterol (LDLC), triglycerides (TG), apolipoprotein B (apoB), apolipoprotein A-I (apoA-I), and body mass index (BMI). None of these variables differed significantly between genotypes in the I/D polymorphism in any of three population samples. A single population sample created by combining the three series, exhibited an insignificant trend towards individuals carrying the D-allele having a higher level of Lp(a) lipoprotein than those lacking it, and DD homozygotes had a significantly higher Lp(a) lipoprotein level than the combined group of ID/II individuals (p = 0.03). These results may indicate that the D-allele of the I/D polymorphism at the ACE locus could influence the level of Lp(a) lipoprotein.
据报道，血管紧张素I转换酶（ACE）基因座插入/缺失（I/D）多态性的缺失（D）等位基因是心肌梗死（MI）的独立危险因素，尤其是在缺乏传统危险因素的人群中。此外，一项研究报道了Lp（a）脂蛋白水平与ACE基因座I/D多态性之间存在临界关联。我们研究了ACE基因对Lp（a）脂蛋白、总胆固醇（TC）、高密度脂蛋白（HDL）胆固醇（HDLC）、低密度脂蛋白（LDL）胆固醇（LDLC）、甘油三酯（TG）、载脂蛋白B（apoB）、载脂蛋白A-I（apoA-I）和体重指数（BMI）可能存在的“水平基因”或“变异性基因”效应。在三个群体样本中，I/D多态性的不同基因型之间，这些变量均无显著差异。将这三个系列合并创建的单一群体样本显示，携带D等位基因的个体Lp（a）脂蛋白水平高于未携带该等位基因个体，呈现出不显著的趋势，且DD纯合子的Lp（a）脂蛋白水平显著高于ID/II个体的合并组（p = 0.03）。这些结果可能表明，ACE基因座I/D多态性的D等位基因可能影响Lp（a）脂蛋白水平。
