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Updated: Jan 12, 2026

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在高胆固醇血症中的APOE p

Daniel Bello-Álvarez¹, Ana Cenarro², Ana M Bea¹

¹Unidad de Lípidos, Hospital Universitario Miguel Servet, IIS Aragón, Spain (Drs Bello-Álvarez, Cenarro, Bea, Marco-Benedí, Jarauta, Ortiz-Palma, and Civeira); Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III (ISCIII), Madrid, Spain (Drs Bello-Álvarez, Cenarro, Bea, Marco-Benedí, Jarauta, and Civeira).

Journal of clinical lipidology

|November 6, 2025

概括

APOE p.(Leu167del) 变种是高胆固醇血症的原因,与家族性高胆固醇血症 (FH) 不同. 这项研究确定了其表型和频率,支持将其纳入FH遗传查.

科学领域:

遗传学和分子生物学
心血管医学心血管医学
人口健康人口健康

背景情况:

APOE p. ((Leu167del) 变异是一种罕见的自体主导高胆固醇血症的原因.
这种变异的综合表型特征和频率尚未得到很好的定义.

研究的目的:

描述p.(Leu167del) 携带者和患有原发性高胆固醇血症或家族性高胆固醇血症 (FH) 个体之间的表型差异.
估计不同人群中APOE p.

主要方法:

从米格尔·塞尔维特大学医院 (HUMS) 队列 (n=6489) 分析的表型数据.
使用HUMS,阿拉贡工人健康研究 (AWHS,n=5678) 和国际数据集 (GnomAD,TOPMed,100K基因组项目) 估计的等位基因频率.
通过HUMS数据和系统文献审查评估运营商概况.

主要成果:

与非载体相比,APOE p. ((Leu167del) 载体表现出较高的HDL,LDL和非HDL胆固醇,以及较低的Lp ((a)).
与患有LDLR,APOB或PCSK9变异的FH患者相比,携带者有更高的甘油三和HDL,但较低的LDL和Lp).
变体的频率在一般人群中为~1:12,000,在FH患者中为~2.5%.

结论:

APOE p.(Leu167del) 与高胆固醇血症有关,LDL胆固醇比典型的FH低.
这些发现支持p.{Leu167del) 作为FH的原因,建议将其纳入遗传查,特别是在高加索人群中.

关键词:

在这里,APOEOE是APOE.家庭性高胆固醇血症是什么?遗传性高胆固醇血症是一种遗传性高胆固醇血症.脂质新陈代谢脂质新陈代谢 p. ((Leu167del) 的使用情况)

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