A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia

Article

关键词: FREQUENTLY OCCURRING MUTATION;    HDL CHOLESTEROL LEVELS;    MYOCARDIAL-INFARCTION;    PLASMA;    EXPRESSION;    ASN291SER;    ATHEROSCLEROSIS;    HYPERLIPIDEMIA;    ASSOCIATION;    DEFICIENCY;   

DOI  :  10.1161/01.CIR.97.8.729

来源: SCIE

【 摘 要 】

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 carr)ring 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.

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