Butnariu Lăcramioara Ionela, Gorduza Eusebiu Vlad, Țarcă Elena, Pânzaru Monica-Cristina, Popa Setalia, Stoleriu Simona, Lupu Vasile Valeriu, Lupu Ancuta, Cojocaru Elena, Trandafir Laura Mihaela, Moisă Ștefana Maria, Florea Andreea, Stătescu Laura, Bădescu Minerva Codruța
Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
Department of Surgery II-Pediatric Surgery, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
Diagnostics (Basel). 2023 Jul 12;13(14):2348. doi: 10.3390/diagnostics13142348.
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.
致动脉粥样硬化性血脂异常在代谢综合征（MetS）的发生发展中起着关键作用，它是代谢综合征的主要组成部分之一，与中心性肥胖、胰岛素抵抗和高血压并列。近年来，分子遗传学技术的发展以及在基因组或外显子水平的深入分析，在识别与MetS相关的脂质代谢紊乱所涉及的遗传因素（遗传力）方面取得了重要进展。在本综述中，我们旨在介绍与致动脉粥样硬化性血脂异常的遗传病因相关的现有知识，以及未来研究可能面临的挑战。基于候选基因的关联研究或全基因组关联研究（GWAS）和全外显子测序（WES）等扩展研究提供的文献数据表明，致动脉粥样硬化性血脂异常具有显著的遗传异质性（单基因或复杂的、多因素的）。尽管付出了持续努力，但许多遗传因素仍未被识别（遗传力缺失）。未来，识别新基因及其干预脂质紊乱的分子机制，将有助于开发针对特定靶点的创新疗法。此外，使用多基因风险评分（PRS）或特定生物标志物来识别患致动脉粥样硬化性血脂异常和/或MetS其他组分风险增加的个体，将有助于采取有效的预防措施和个性化治疗。
