Division of Heart and Lungs, Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.
Curr Opin Lipidol. 2013 Apr;24(2):123-8. doi: 10.1097/MOL.0b013e32835df2d6.
This review summarizes recently published large-scale efforts elucidating the genetic architecture of lipid levels. A supplemental file with all genetic loci is provided for research purposes and we performed bioinformatic analyses of the genetic variants to give an oversight of involved pathways.
In total, 52 genes for HDL cholesterol, 42 genes for LDL cholesterol, 59 genes for total cholesterol, and 39 genes for triglycerides have been identified. Genetic overlap is present between the different traits and similar pathways are involved. Most of the SNPs that were detected in the European studies could be replicated in other ethnicities and these SNPs show the same direction of effect suggesting that the underlying genetic architecture of blood lipids is similar between ethnicities.
Genetic studies have identified many loci associated with plasma lipids and have provided insight into the underlying mechanisms of lipid homeostasis. Future research is needed to determine whether these loci may be novel targets for lipid-lowering therapy and for reducing cardiovascular disease risk. In addition, the proportion of genetic variance explained by these lipid loci is still limited and new large-scale genetic studies are ongoing to identify additional common and rare variants associated with lipid levels.
本综述总结了最近发表的大规模研究，阐明了血脂水平的遗传结构。为研究目的提供了包含所有遗传位点的补充文件，并对遗传变异进行了生物信息学分析，以了解涉及的途径。
共鉴定出 52 个高密度脂蛋白胆固醇基因、42 个低密度脂蛋白胆固醇基因、59 个总胆固醇基因和 39 个甘油三酯基因。不同特征之间存在遗传重叠，涉及相似的途径。在欧洲研究中检测到的大多数 SNP 可以在其他种族中复制，这些 SNP 显示出相同的作用方向，表明不同种族之间的血脂遗传结构相似。
遗传研究已经确定了许多与血浆脂质相关的基因座，并深入了解了脂质动态平衡的潜在机制。需要进一步的研究来确定这些基因座是否可能成为降脂治疗和降低心血管疾病风险的新靶点。此外，这些脂质基因座解释的遗传变异比例仍然有限，新的大规模遗传研究正在进行，以确定与脂质水平相关的其他常见和罕见变异。
