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首页> 外文期刊>Current opinion in lipidology >Finding genes and variants for lipid levels after genome-wide association analysis
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Finding genes and variants for lipid levels after genome-wide association analysis

机译：在全基因组关联分析后找到脂质水平的基因和变体

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Purpose of Review: We review the main findings from genome-wide association studies (GWAS) for levels of HDL-cholesterol, LDL-cholesterol and triglycerides, including approaches to identify the functional variant(s) or gene(s). We discuss study design and challenges related to whole genome or exome sequencing to identify novel genes and variants. Recent Findings: GWAS have detected approximately 100 loci associated with one or more lipid trait. Fine mapping of several loci for LDL-cholesterol demonstrated that the trait variance explained may double when the functional variants responsible for the association signals are identified. Experimental follow-up of three loci identified by GWAS has identified functional genes GALNT2, TRIB1, and SORT1, and a functional variant at SORT1. Summary: The goal of genetic studies for lipid levels is to improve treatment and ultimately reduce the prevalence of heart disease. Many signals identified by GWAS have modest effect sizes, useful for identifying novel biologically relevant genes, but less useful for personalized medicine. Whole genome or exome sequencing studies may fill this gap by identifying rare variants of larger effect associated with lipid levels and heart disease.
机译：审查目的：我们审查了全基因组关联研究（GWAS）对HDL-胆固醇，LDL-胆固醇和甘油三酸酯水平的主要发现，包括鉴定功能性变体或基因的方法。我们讨论研究设计和与全基因组或外显子组测序相关的挑战，以鉴定新的基因和变异体。最新发现：GWAS已检测到约100个与一种或多种脂质性状相关的基因座。对LDL-胆固醇的几个基因座进行精细定位，结果表明，当识别出负责关联信号的功能变体时，所解释的性状变异可能会加倍。通过GWAS鉴定的三个基因座的实验随访已鉴定出功能基因GALNT2，TRIB1和SORT1，以及SORT1的功能变体。摘要：关于脂质水平的遗传研究的目标是改善治疗并最终降低心脏病的患病率。由GWAS识别的许多信号具有适度的效应大小，可用于识别新的生物学相关基因，但对个性化医学则不太有用。全基因组或外显子组测序研究可以通过鉴定与脂质水平和心脏病相关的较大影响的罕见变体来填补这一空白。

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