Ahmadzadeh Alireza, Azizi Fereidoun
Department of Molecular Medicine, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Arch Iran Med. 2014 Jun;17(6):444-50.
Atherosclerosis is the main cause of death in the world through causing ischemic heart disease (IHD). Altered serum lipid level is the most important risk factor for coronary artery disease (CAD). Many studies reveal a strong inverse association between low levels of high density lipoprotein cholesterol (HDL-C) and increased risk of IHD. On the other hand, plasma levels of HDL-C has a strong hereditary basis. This review focuses on recent data about genetic defects that reduce the level of HDL-C. In order to investigate possible genes linked to low HDL-C disorder, we reviewed previous studies; we searched current medical literature from September 1990 through January 2013 for the genetics causes of low HDL-C levels. Genetic defects in ATP binding cassette protein (ABCA1), apolipoprotein (APO) A1, lecithin cholesteryl acyl transferase, Lipoprotein lipase (LPL), and angiopoietin-like 3 proteins (ANGPTL3) associated with low HDL-C. Other potentially important candidates involved in low HDL-C syndromes are metabolic disorders including sphingomyelin phosphodiesterase 1 and glucocerebrosidase. Also Molecular variations in many genes such as ABCAI and APOAI, TRIB1 and Apo E, lipoprotein lipase (LPL), WW domain-containing oxidoreductase (WWOX), Hepatic lipase (HL), lecithin cholesteryl acyl transferase and some linkage analysis have been associated with reduced HDL-Status. Low HDL-C syndrome has a strong genetic basis and is correlated with an increased risk of CAD.
动脉粥样硬化是导致缺血性心脏病(IHD)进而成为全球主要死因。血清脂质水平改变是冠状动脉疾病(CAD)最重要的危险因素。许多研究表明,高密度脂蛋白胆固醇(HDL-C)水平低与IHD风险增加之间存在强烈的负相关。另一方面,HDL-C的血浆水平有很强的遗传基础。本综述聚焦于近期有关降低HDL-C水平的基因缺陷的数据。为了研究可能与低HDL-C紊乱相关的基因,我们回顾了以往的研究;我们检索了1990年9月至2013年1月期间的医学文献,以查找低HDL-C水平的遗传学原因。ATP结合盒蛋白(ABCA1)、载脂蛋白(APO)A1、卵磷脂胆固醇酰基转移酶、脂蛋白脂肪酶(LPL)和血管生成素样3蛋白(ANGPTL3)的基因缺陷与低HDL-C相关。参与低HDL-C综合征的其他潜在重要候选因素是代谢紊乱,包括鞘磷脂磷酸二酯酶1和葡萄糖脑苷脂酶。此外,许多基因的分子变异,如ABCAI和APOAI、TRIB1和载脂蛋白E、脂蛋白脂肪酶(LPL)、含WW结构域的氧化还原酶(WWOX)、肝脂肪酶(HL)、卵磷脂胆固醇酰基转移酶以及一些连锁分析都与HDL水平降低有关。低HDL-C综合征有很强的遗传基础,并且与CAD风险增加相关。