Evans D, Buchwald A, Beil F U
Klinik und Poliklinik für Innere Medizin, Medizinische Klinik I, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
J Mol Med (Berl). 2003 Oct;81(10):645-54. doi: 10.1007/s00109-003-0465-4. Epub 2003 Aug 23.
The -1131T>C polymorphism in the newly identified apolipoprotein A5 (APOA5) gene has been associated with elevated plasma triglycerides. We determined its incidence in 915 patients attending a lipid outpatient clinic. The frequency of the C allele was significantly higher in patients with triglycerides above the 90th percentile and patients with type III hyperlipidemia compared to those with hypercholesterolemia. The C allele was associated with increased plasma triglycerides and decreased plasma HDL cholesterol, conditions associated with an increased risk of coronary heart disease. The effects on plasma lipids were only observed in overweight (BMI>25) patients and were greater in patients who were also carriers of a least one epsilon4 allele in the APOE gene. Thus additional genetic and/or metabolic factors are required in order for the triglyceride raising and HDL lowering effect of the -1131T>C polymorphism in APOA5 to be expressed.
新发现的载脂蛋白A5（APOA5）基因中的 -1131T>C多态性与血浆甘油三酯升高有关。我们在915名脂质门诊患者中确定了其发生率。与高胆固醇血症患者相比，甘油三酯高于第90百分位数的患者和III型高脂血症患者中C等位基因的频率显著更高。C等位基因与血浆甘油三酯升高和血浆高密度脂蛋白胆固醇降低有关，这些情况与冠心病风险增加相关。对血浆脂质的影响仅在超重（BMI>25）患者中观察到，并且在也是APOE基因中至少一个ε4等位基因携带者的患者中影响更大。因此，为了使APOA5中 -1131T>C多态性的甘油三酯升高和高密度脂蛋白降低作用得以表达，还需要其他遗传和/或代谢因素。
