Monsalve M V, Robinson D, Woolcock N E, Powell J T, Greenhalgh R M, Humphries S E
Charing Cross Sunley Research Centre, London, UK.
Clin Genet. 1991 Apr;39(4):260-73. doi: 10.1111/j.1399-0004.1991.tb03024.x.
We have examined the association between variation at the apolipoprotein (apo) B gene and apo AI-CIII-AIV gene cluster and within-individual variation in serum cholesterol levels. Annual measurements were available over a period of 5-10 years in a group of 117 male patients with peripheral arterial disease. The overall within-individual coefficient of variation in cholesterol levels over time was 13.9%. For all patients, Restriction Fragment Length Polymorphism (RFLP) genotype at the apo B gene (XbaI and EcoRI) and apo AI-CIII-AIV gene cluster (XmnI, PstI and PvuII-CIII) had previously been determined. At the apo B locus, individuals heterozygous for either the XbaI or EcoRI RFLP showed significantly greater within-individual variability over time compared to individuals of other genotypes. At the apo AI-CIII-AIV gene cluster, individuals homozygous for the common allele of either the PstI or PvuIIA RFLPs showed the greatest within-individual variability over time but there was no difference in this estimate associated with XmnI genotype. Our observations suggest that variation at both the apo B and apo AI-CIII-AIV loci interacts with unidentified environmental factors to determine individual variability in serum cholesterol levels over time.
我们研究了载脂蛋白（apo）B基因和apo AI-CIII-AIV基因簇的变异与个体血清胆固醇水平变异之间的关联。对117名患有外周动脉疾病的男性患者进行了为期5至10年的年度测量。随着时间推移，个体胆固醇水平的总体变异系数为13.9%。之前已确定了所有患者载脂蛋白B基因（XbaI和EcoRI）以及载脂蛋白AI-CIII-AIV基因簇（XmnI、PstI和PvuII-CIII）的限制性片段长度多态性（RFLP）基因型。在载脂蛋白B位点，与其他基因型个体相比，XbaI或EcoRI RFLP杂合的个体随着时间推移显示出显著更大的个体内变异性。在载脂蛋白AI-CIII-AIV基因簇中，PstI或PvuIIA RFLP常见等位基因纯合的个体随着时间推移显示出最大的个体内变异性，但与XmnI基因型相关的这一估计值没有差异。我们的观察结果表明，载脂蛋白B和载脂蛋白AI-CIII-AIV位点的变异与未明确的环境因素相互作用，以确定个体血清胆固醇水平随时间的变异性。
