To contribute to the analysis of the genetic background of atherosclerosis, especially endothelial dysfunction, we searched for DNA polymorphisms in the genes encoding E-, P-, and L-selectin, and ICAM-I and VCAM-I. We detected 17 mutations by single-strand conformation polymorphisms analysis and direct sequencing. Five of them resulted in an amino acid substitution. In E-selectin, exchanges from serine to arginine (position 128), from leucine to phenylalanine (position 554), and a DNA mutation from guanine to thymine (position 98) present significantly different allele frequencies in young patients with angiographically established, severe atherosclerosis, compared with an unselected population. Results suggest that these polymorphisms are associated with a higher risk for early severe atherosclerosis.
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机译：为了有助于分析动脉粥样硬化的遗传背景，尤其是内皮功能障碍，我们在编码 E-、P 和 L-选择素以及 ICAM-I 和 VCAM-I 的基因中寻找 DNA 多态性。我们通过单链构象多态性分析和直接测序检测到17个突变。其中五种导致氨基酸取代。在 E-选择素中，从丝氨酸到精氨酸（位置 128）、从亮氨酸到苯丙氨酸（位置 554）的交换以及从鸟嘌呤到胸腺嘧啶（位置 98）的 DNA 突变在血管造影证实的严重动脉粥样硬化的年轻患者中呈现出显着不同的等位基因频率与未选择的人群相比。结果表明，这些多态性与早期严重动脉粥样硬化的风险较高有关。
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