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载脂蛋白E基因多态性与性别

Apolipoprotein E gene polymorphism and gender.

作者信息

Kolovou Genovefa, Damaskos Dimitris, Anagnostopoulou Katherine, Cokkinos Dennis V

机构信息

Cardiology Department, Onassis Cardiac Surgery Center, Athens University Medical School, Athens, Greece.

出版信息

Ann Clin Lab Sci. 2009 Spring;39(2):120-33.

Abstract

Many studies have shown that the prevalence and onset of coronary heart disease (CHD) is sex-dependent. CHD prevalence is lower in women than in men at all ages. Furthermore, women's age of CHD onset seems to be 10 yr later. This is widely attributed to the fact that men have less favorable CHD risk factors (eg, plasma lipid profile) compared to women. Mean levels of protective high density lipoprotein cholesterol are lower, while triglyceride levels are higher in men than in women. It is possible that many of the genes involved in lipid metabolism, such as Apolipoprotein (Apo) E, as well as their polymorphisms, may be expressed in a sexually dimorphic manner. The human Apo E gene is polymorphic, encoding one of 3 common epsilon (epsilon) alleles (epsilon 2, epsilon 3, epsilon 4), with the epsilon 3 allele occurring most frequently (78%) in the Caucasian population. Association studies have shown a protective effect on CHD in epsilon 2 carriers and a harmful effect in epsilon 4 carriers. However, there are conflicting results regarding such allelic effects in respect to gender. This review is focused on the gender-related influence of Apo E polymorphism in respect to plasma lipid levels and the risk of CHD. Additionally, an effort is made to determine if this relation exists and if it can be satisfactorily explained. The studies cited here demonstrate a complex, multifactorial association between these factors, in need of further corroboration in greater population samples.

摘要

许多研究表明,冠心病(CHD)的患病率和发病情况存在性别差异。在所有年龄段,女性的冠心病患病率均低于男性。此外,女性冠心病的发病年龄似乎比男性晚10年。这被广泛归因于与女性相比,男性具有更不利的冠心病危险因素(例如血脂谱)。男性中具有保护作用的高密度脂蛋白胆固醇的平均水平较低,而甘油三酯水平则高于女性。参与脂质代谢的许多基因,如载脂蛋白(Apo)E及其多态性,可能以性别二态性的方式表达。人类Apo E基因具有多态性,编码3种常见的ε(epsilon)等位基因之一(ε2、ε3、ε4),其中ε3等位基因在白种人群中出现的频率最高(78%)。关联研究表明,ε2携带者对冠心病有保护作用,而ε4携带者则有有害作用。然而,关于这种等位基因效应在性别方面的结果存在冲突。本综述重点关注Apo E多态性在血浆脂质水平和冠心病风险方面与性别相关的影响。此外,还努力确定这种关系是否存在以及是否能得到满意的解释。这里引用的研究表明,这些因素之间存在复杂的多因素关联,需要在更大的人群样本中进一步证实。

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