现在是转变模式的时候了吗?将 APOE 纳入遗传性血脂异常样本。

IF 1.9 4区 医学 Q3 GENETICS & HEREDITY Journal of Genetic Counseling Pub Date : 2024-03-28 DOI:10.1002/jgc4.1889
Hannah E Ison, Mohammad Mowaswes, Ronen Durst, Thorsten Leucker, Joshua W Knowles, Emily E Brown
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引用次数: 0

摘要

APOE 是载脂蛋白 E(ApoE)的代码,它在脂质和脂蛋白代谢以及组织脂质含量的平衡中发挥着重要作用。APOE 中的一些变异与遗传性血脂异常以及随之而来的过早罹患冠状动脉疾病(CAD)的风险增加有关。然而,这些变异及其对风险的影响可以被认为是多方面的,有些变异是单基因的,有些则是多基因/多因素的。尽管存在这些已知的关联,但由于 APOE 与阿尔茨海默病的关联,人们在进行 APOE 基因检测时往往会犹豫不决。本文旨在促进有关 APOE 检测和咨询策略的讨论,强调围绕这一主题的细微差别,并倡导在怀疑有遗传性血脂异常时将 APOE 检测纳入血脂异常检查。
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Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels.

APOE codes for apolipoprotein E (ApoE), which plays an important role in lipid and lipoprotein metabolism and homeostasis of tissue lipid content. Several variants in APOE have been associated with inherited dyslipidemias, and a subsequent increased risk of developing premature coronary artery disease (CAD). However, these variants and their impact on risk can be thought of on a spectrum, with some being more monogenic in nature, and others contributing in a polygenic/multifactorial manner. Despite these known associations, there is often hesitancy around ordering APOE genetic testing due to the association with Alzheimer's disease. This paper aims to catalyze discussion around APOE testing and counseling strategies, highlight the nuances around this topic, and advocate for inclusion of APOE testing on dyslipidemia panels when an inherited dyslipidemia is suspected.

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来源期刊
Journal of Genetic Counseling
Journal of Genetic Counseling GENETICS & HEREDITY-
CiteScore
3.80
自引率
26.30%
发文量
113
审稿时长
6 months
期刊介绍: The Journal of Genetic Counseling (JOGC), published for the National Society of Genetic Counselors, is a timely, international forum addressing all aspects of the discipline and practice of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technological developments and the concerns of individuals and communities at genetic risk. The publication provides genetic counselors, other clinicians and health educators, laboratory geneticists, bioethicists, legal scholars, social scientists, and other researchers with a premier resource on genetic counseling topics in national, international, and cross-national contexts.
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