Galton D J, Mattu R, Needham E W, Cavanna J
Medical Professorial Unit, St Bartholomew's Hospital, London, U.K.
Z Gastroenterol. 1996 Jun;34 Suppl 3:56-8.
To determine the effect of a common mutation (Ser447-Ter) of the human LPL gene upon serum lipid and lipoprotein levels and coronary artery disease (CAD) within a representative adult male population, we analyzed subjects from the Caerphilly Prospective Heart Disease Study (n = 1273). The possession of this mutation associates with protective lipid and lipoprotein profiles. Subjects possessing the mutation have significantly higher HDL-C (p = 0.002) and apo AI (p < 0.04) levels, lower triglycerides (p = < 0.04) and total cholesterol/HDL-C ratios (p < 0.02); all established previously to reduce risk of CAD. We also find that this mutation is significantly less frequent amongst CAD subjects (p < 0.05). These associations provide evidence for a common mutation that appears to confer beneficial lipid and lipoprotein profiles amongst an adult male population with regard to risk of CAD.
为了确定人类脂蛋白脂肪酶（LPL）基因的常见突变（Ser447-Ter）对具有代表性的成年男性人群的血脂、脂蛋白水平及冠状动脉疾病（CAD）的影响，我们分析了来自卡菲利前瞻性心脏病研究的受试者（n = 1273）。拥有这种突变与保护性血脂和脂蛋白谱相关。携带该突变的受试者具有显著更高的高密度脂蛋白胆固醇（HDL-C）水平（p = 0.002）和载脂蛋白AI（apo AI）水平（p < 0.04），更低的甘油三酯水平（p = < 0.04）以及总胆固醇/HDL-C比值（p < 0.02）；所有这些指标先前均已证实可降低CAD风险。我们还发现，这种突变在CAD受试者中出现的频率显著更低（p < 0.05）。这些关联为一种常见突变提供了证据，该突变似乎在成年男性人群中就CAD风险而言赋予了有益的血脂和脂蛋白谱。
