Visvikis S, Cambou J P, Arveiler D, Evans A E, Parra H J, Aguillon D, Fruchart J C, Siest G, Cambien F
Laboratoire du Centre de Médecine Préventive, UA CNRS N. 597, Vandoeuvre lès Nancy, France.
Hum Genet. 1993 Jan;90(5):561-5. doi: 10.1007/BF00217459.
We report the allele frequencies of the apolipoprotein B (Apo B) signal peptide polymorphism in patients with myocardial infarction and compare them with controls. The first sample consists of 197 myocardial infarction patients and 168 controls from Belfast (UK). The second sample consists of 167 myocardial infarction patients and 205 controls from Strasbourg (France), and the third consists of 71 patients and 146 controls from Haute-Garonne (Toulouse, France). No significant differences were observed in the frequency distribution of genotypes among cases and controls or between populations. However, there were more rare homozygotes in the Belfast cases. Significant associations were observed between the Apo B signal peptide polymorphism and mean levels of total cholesterol, low density lipoprotein cholesterol, Apo B and lipoprotein particles containing Apo (a) [Lp(a)] in the Strasbourg control population. Individuals homozygous for the rare allele had higher levels of these lipid parameters. In Belfast, although not statistically significant, the Apo B signal peptide polymorphism had a similar effect on Apo-B-related parameters as seen in Strasbourg. No significant associations were observed in the Haute-Garonne population where the risk of myocardial infarction is three times lower than in Belfast. In all three populations, the average Lp(a) levels were consistently different among Apo B signal peptide genotypes. These data implicate the Apo B signal peptide in determining some of the risks of myocardial infarction in these populations. Regardless of the exact mechanism, the Apo B signal peptide is an important candidate locus for the study of potentially atherogenic lipid variants.
我们报告了心肌梗死患者载脂蛋白B(Apo B)信号肽多态性的等位基因频率,并将其与对照组进行比较。第一个样本包括来自英国贝尔法斯特的197名心肌梗死患者和168名对照。第二个样本包括来自法国斯特拉斯堡的167名心肌梗死患者和205名对照,第三个样本包括来自法国上加龙省(图卢兹)的71名患者和146名对照。病例组与对照组之间或不同人群之间的基因型频率分布未观察到显著差异。然而,贝尔法斯特的病例中有更多罕见纯合子。在斯特拉斯堡对照人群中,观察到Apo B信号肽多态性与总胆固醇、低密度脂蛋白胆固醇、Apo B以及含Apo(a)的脂蛋白颗粒[Lp(a)]的平均水平之间存在显著关联。罕见等位基因纯合个体的这些血脂参数水平较高。在贝尔法斯特,虽然无统计学意义,但Apo B信号肽多态性对Apo-B相关参数的影响与斯特拉斯堡相似。在上加龙省人群中未观察到显著关联,该人群中心肌梗死风险比贝尔法斯特低三倍。在所有三个群体中,Apo B信号肽基因型之间的平均Lp(a)水平始终存在差异。这些数据表明Apo B信号肽在这些人群中决定心肌梗死的某些风险。无论确切机制如何,Apo B信号肽都是研究潜在致动脉粥样硬化脂质变体的重要候选基因座。