The single nucleotide polymorphism-1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia
The single nucleotide polymorphism-1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia
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DOI：
10.1007/s00109-003-0465-4
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发表时间：
2003-10-01
影响因子：
4.7
通讯作者：
Beil, FU
中科院分区：
文献类型：
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作者：
Evans, D;Buchwald, A;Beil, FU
新发现的载脂蛋白A5（APOA 5）基因-1131 T>C多态性与血浆甘油三酯升高相关。我们确定了915例参加血脂门诊的患者的发病率。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型高脂血症患者的C等位基因频率显著较高。C等位基因与血浆甘油三酯升高和血浆HDL胆固醇降低相关，这些条件与冠心病风险增加相关。仅在超重（BMI>25）患者中观察到对血脂的影响，并且在APOE基因中至少有一个ε 4等位基因的患者中更大。因此，为了表达APOA 5中-1131 T>C多态性的甘油三酯升高和HDL降低作用，需要额外的遗传和/或代谢因素。
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.