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Abstract：
Atherogenic dyslipidemia plays a critical role in the development of metabolic syndrome (MetS), being one of its major components, along with central obesity, insulin resistance, and hypertension. In recent years, the development of molecular genetics techniques and extended analysis at the genome or exome level has led to important progress in the identification of genetic factors (heritability) involved in lipid metabolism disorders associated with MetS. In this review, we have proposed to present the current knowledge related to the genetic etiology of atherogenic dyslipidemia, but also possible challenges for future studies. Data from the literature provided by candidate gene-based association studies or extended studies, such as genome-wide association studies (GWAS) and whole exome sequencing (WES,) have revealed that atherogenic dyslipidemia presents a marked genetic heterogeneity (monogenic or complex, multifactorial). Despite sustained efforts, many of the genetic factors still remain unidentified (missing heritability). In the future, the identification of new genes and the molecular mechanisms by which they intervene in lipid disorders will allow the development of innovative therapies that act on specific targets. In addition, the use of polygenic risk scores (PRS) or specific biomarkers to identify individuals at increased risk of atherogenic dyslipidemia and/or other components of MetS will allow effective preventive measures and personalized therapy.
摘要：
动脉粥样硬化血脂异常在代谢综合征（MetS）的发展中起着至关重要的作用，作为其主要组成部分之一，伴随着中心性肥胖，胰岛素抵抗，和高血压。近年来,分子遗传学技术的发展和基因组或外显子组水平的扩展分析导致了与MetS相关的脂质代谢紊乱相关的遗传因素(遗传力)的鉴定方面的重要进展.在这次审查中,我们提出了目前与动脉粥样硬化血脂异常的遗传病因相关的知识，但也可能对未来的研究挑战。数据来自基于候选基因的关联研究或扩展研究提供的文献，例如全基因组关联研究(GWAS)和全外显子组测序(WES，)揭示了动脉粥样硬化血脂异常呈现明显的遗传异质性(单基因或复杂，多因素)。尽管持续努力,许多遗传因素仍未被识别（缺乏遗传力）。在未来,新基因的鉴定及其干预脂质紊乱的分子机制将允许开发针对特定靶标的创新疗法。此外,使用多基因风险评分(PRS)或特异性生物标志物来鉴定动脉粥样硬化型血脂异常和/或MetS其他组分风险增加的个体将允许有效的预防措施和个性化治疗.
