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In vivo characterization of human APOA5 haplotypes.

机译：人APOA5单倍体的体内表征。

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Increased plasma triglyceride concentrations are an independent risk factor for cardiovascular disease. Numerous studies support a reproducible genetic association between two minor haplotypes in the human apolipoprotein A5 gene (APOA5) and increased plasma triglyceride concentrations. We thus sought to investigate the effects of these minor haplotypes (APOA5*2 and APOA5*3) on ApoAV plasma levels through the precise insertion of single-copy APOA5 haplotypes at a targeted location (Hprt) in the mouse genome. While we found no difference in the amount of human plasma ApoAV in mice containing the common APOA5*1 or minor APOA5*2 haplotype, the introduction of the single APOA5*3-defining allele (19W) resulted in three fold lower ApoAV plasma levels, consistent with existing genetic association studies. These results indicate that the S19W polymorphism is likely to be functional and explain the strong association of this variant with plasma triglycerides, supporting the value of sensitive in vivo assays to define the functional nature of human haplotypes.
机译：血浆甘油三酸酯浓度升高是心血管疾病的独立危险因素。许多研究支持人类载脂蛋白A5基因（APOA5）中两个较小的单倍型与血浆甘油三酸酯浓度升高之间的可重现遗传关联。因此，我们试图通过在小鼠基因组中的目标位置（Hprt）精确插入单拷贝APOA5单倍型来研究这些次要单倍型（APOA5 * 2和APOA5 * 3）对ApoAV血浆水平的影响。虽然我们在含有普通APOA5 * 1或较小APOA5 * 2单倍型的小鼠中发现人血浆ApoAV的量没有差异，但是引入单个APOA5 * 3定义等位基因（19W）导致ApoAV血浆水平降低了三倍，与现有的遗传关联研究一致。这些结果表明，S19W多态性很可能具有功能性，并解释了该变异体与血浆甘油三酸酯的强相关性，支持了敏感的体内测定法定义人单倍型功能性质的价值。

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