脂蛋白脂肪酶基因（N291S）的常见突变会改变家族性高胆固醇血症患者的脂蛋白表型和心血管疾病风险。
A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.
作者信息
Wittekoek M E, Pimstone S N, Reymer P W, Feuth L, Botma G J, Defesche J C, Prins M, Hayden M R, Kastelein J J
机构信息
Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam, The Netherlands.
出版信息
Circulation. 1998 Mar 3;97(8):729-35. doi: 10.1161/01.cir.97.8.729.
BACKGROUND
Recently, a mutation in the lipoprotein lipase (LPL) gene (N291S) has been reported in 2% to 5% of individuals in western populations and is associated with increased triglyceride (TG) and reduced HDL cholesterol (HDLC) concentrations.
METHODS AND RESULTS
Here we report a significant alteration in biochemical and clinical phenotype in subjects with familial hypercholesterolemia (FH) who are heterozygous for this N291S LPL mutation. Sixty-four FH heterozygotes carrying the N291S mutation had significantly a higher TG level (P=.004), a higher ratio of total cholesterol to HDLC (P<.001), and lower HDLC concentrations (P=.002) compared with 175 FH heterozygotes without this LPL mutation. Moreover, the N291S mutation conferred a significantly greater risk for developing cardiovascular disease in FH heterozygotes compared with FH heterozygotes without this LPL mutation (odds ratio, 3.875; P=.006).
CONCLUSIONS
These data provide evidence that a common LPL variant (N291S) significantly influences the biochemical phenotype and risk for cardiovascular disease in patients with FH.
背景
最近，脂蛋白脂肪酶（LPL）基因（N291S）的一种突变在西方人群2%至5%的个体中被报道，且与甘油三酯（TG）升高和高密度脂蛋白胆固醇（HDLC）浓度降低相关。
方法与结果
在此我们报告了携带这种N291S LPL突变的杂合子家族性高胆固醇血症（FH）患者在生化和临床表型上的显著改变。与175名未携带这种LPL突变的FH杂合子相比，64名携带N291S突变的FH杂合子的TG水平显著更高（P = 0.004），总胆固醇与HDLC的比率更高（P < 0.001），HDLC浓度更低（P = 0.002）。此外，与未携带这种LPL突变的FH杂合子相比，N291S突变使FH杂合子发生心血管疾病的风险显著更高（优势比，3.875；P = 0.006）。
结论
这些数据提供了证据，表明一种常见的LPL变异（N291S）显著影响FH患者的生化表型和心血管疾病风险。
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