Ramsbottom D, Fitzgerald P, Grace P A, McAnena O, Burke P, Collins P, Johnson A, Croke D T, Bouchier-Hayes D
Department of Surgery, Royal College of Surgeons in Ireland, St Stephen's Green, Dublin.
Eur J Vasc Surg. 1994 Nov;8(6):716-22. doi: 10.1016/s0950-821x(05)80652-8.
Abdominal aortic aneurysm (AAA) is a common disease of the elderly exhibiting a complex aetiology. In a survey of 82 Irish aneurysm patients, compared to 79 age- and sex-matched control subjects, we have investigated a number of potential biochemical and molecular genetic markers which are amenable to analysis from blood specimens and which might have predictive value for AAA. No significant differences were observed between patients and control subjects in relation to serum lipids, leucocyte elastase activity or serum alpha 1-antitrypsin concentration. We have used the polymerase chain reaction to screen the patient and control groups in search of disease-associated genetic variation on chromosome 16, particularly in the region of the Cholesteryl Ester Transfer Protein (CETP) gene. Although variation in allele frequencies was detected between patients and controls at the four marker loci studied, no significant gene-disease associations were detected. The absence of gene-disease associations in our study may indicate that the genetic component in the aetiology of AAA in Ireland differs from that in the UK. Alternatively, it may indicate that the high degree of polymorphism at microsatellite loci may make them unsuitable as markers for the study of gene-disease associations in moderately sized populations. We therefore conclude that the biochemical and molecular genetic markers which we have examined are of no predictive value, and that ultrasonography remains the screening modality of choice for abdominal aortic aneurysm.
腹主动脉瘤（AAA）是一种病因复杂的常见老年疾病。在一项对82名爱尔兰动脉瘤患者的调查中，我们将其与79名年龄和性别匹配的对照受试者进行了比较，研究了一些潜在的生化和分子遗传标记，这些标记可通过血液样本进行分析，并且可能对腹主动脉瘤具有预测价值。在血清脂质、白细胞弹性蛋白酶活性或血清α1-抗胰蛋白酶浓度方面，患者与对照受试者之间未观察到显著差异。我们使用聚合酶链反应对患者组和对照组进行筛查，以寻找16号染色体上与疾病相关的基因变异，特别是在胆固醇酯转运蛋白（CETP）基因区域。尽管在所研究的四个标记位点上，患者与对照之间检测到等位基因频率的差异，但未检测到显著的基因与疾病关联。我们研究中未发现基因与疾病的关联可能表明，爱尔兰腹主动脉瘤病因中的遗传成分与英国不同。或者，这可能表明微卫星位点的高度多态性可能使其不适合作为中等规模人群中基因与疾病关联研究的标记。因此，我们得出结论，我们所检测的生化和分子遗传标记没有预测价值，超声检查仍然是腹主动脉瘤筛查的首选方式。
