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New Variants in the Apolipoprotein AV Gene in Individuals with Extreme Triglyceride Levels

机译:极端甘油三酸酯水平患者载脂蛋白AV基因的新变体

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Animal studies (on transgenic and knock-out mice) and human association analysis assessed the importance of APOAV gene for plasma triglyceride determination. New APOAV missense variants (Val153 → Met and Cys185 → Gly) have been detected recently. We have analyzed these variants in 83 unrelated patients with extreme lipid parameters (triglycerides of 20.4 ± 12.8 mmol/l and total cholesterol of 10.4 ± 3.7 mmol/l) and in a control population group consisting of 2,559 unrelated Caucasians. In patients, the frequency of the Met153 carriers was slightly but not significantly higher (9.64 % vs. 6.49 %) compared to the population sample. This suggested that Val153 → Met polymorphism in the APOAV gene does not represent an important risk factor for developing the extreme levels of plasma triglycerides. We did not detect carriers of the Gly185 allele among patients or 420 healthy individuals. We suppose that this variant is probably not present in Caucasian populations.
机译:动物研究(对转基因和敲除小鼠的研究)和人体关联分析评估了APOAV基因对血浆甘油三酸酯测定的重要性。最近发现了新的APOAV错义变体(Val153→Met和Cys185→Gly)。我们分析了83名无血脂参数无关的无关患者(甘油三酸酯为20.4±12.8 mmol / l,总胆固醇为10.4±3.7 mmol / l)和由2559名无血缘关系的白种人组成的对照组。在患者中,与人群样本相比,Met153携带者的频率略高但不明显(9.64%比6.49%)。这表明APOAV基因中的Val153→Met多态性并不代表血浆甘油三酯水平升高的重要危险因素。我们未在患者或420名健康个体中检测到Gly185等位基因的携带者。我们认为在白人人群中可能不存在这种变异。

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