Végh Csaba, Langmár Zoltán, Szerző Melinda, Agota Annamária, Marosi Krisztina, Szabolcs Zoltán, Nagy Zsolt B
Genetikával Az Egészségért Egyesület, Budapest.
Orv Hetil. 2012 Dec 30;153(52):2070-6. doi: 10.1556/OH.2012.29508.
Elevated plasma lipid level is one of the main risk factors for cardiovascular diseases, which are considered to be primary causes of death. Apolipoprotein E plays a part in the lipid transport in the blood, thus polimophisms of that affect the lipid composition of the plasma. The three most common alleles of apolipoprotein E are e2, e3, e4. Out of the two non-wild type alleles, the e2 and e4, the latter was shown to play a role in the development of cardiovascular diseases and Alzheimer's disease. Some studies mention the e2/e2 homozygote genotype as one of the causes of hyperlipoproteinemia type III. Besides lipid metabolism, apolipoprotein E also influences the manifestation of cardiovascular diseases through other biochemical pathways, therefore it is essential to explore the molecular background of these metabolic pathways.
血浆脂质水平升高是心血管疾病的主要危险因素之一，而心血管疾病被认为是主要死因。载脂蛋白E在血液中的脂质运输中起作用，因此其多态性会影响血浆的脂质组成。载脂蛋白E的三种最常见等位基因是e2、e3、e4。在两个非野生型等位基因e2和e4中，后者已被证明在心血管疾病和阿尔茨海默病的发展中起作用。一些研究提到e2/e2纯合子基因型是III型高脂蛋白血症的病因之一。除了脂质代谢外，载脂蛋白E还通过其他生化途径影响心血管疾病的表现，因此探索这些代谢途径的分子背景至关重要。
