Next Article in Journal
Centromere Repeats: Hidden Gems of the Genome
Next Article in Special Issue
Exceptional Longevity and Polygenic Risk for Cardiovascular Health
Previous Article in Journal
DNA Replication Timing Enters the Single-Cell Era
Previous Article in Special Issue
Lifespans of Twins: Does Zygosity Matter?
Article Menu
Issue 3 (March) cover image

Export Article

Open AccessReview
Genes 2019, 10(3), 222;

The Genetic Variability of APOE in Different Human Populations and Its Implications for Longevity

Laboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, 40126 Bologna, Italy
Department of Experimental, Diagnostic, and Specialty Medicine (DIMES), University of Bologna, 40126 Bologna, Italy
Department of Experimental and Clinical Biomedical Sciences “Mario Serio”, University of Florence, 50134 Florence, Italy
IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy
Department of Cultural Heritage (DBC), University of Bologna, Ravenna Campus, 48121 Ravenna, Italy
School of Anthropology and Museum Ethnography, University of Oxford, OX2 6PE Oxford, UK
Authors to whom correspondence should be addressed.
Equally contributing authors.
Received: 31 January 2019 / Revised: 1 March 2019 / Accepted: 12 March 2019 / Published: 15 March 2019
(This article belongs to the Special Issue Genetic Determinants of Human Longevity)
PDF [1538 KB, uploaded 25 March 2019]


Human longevity is a complex phenotype resulting from the combinations of context-dependent gene-environment interactions that require analysis as a dynamic process in a cohesive ecological and evolutionary framework. Genome-wide association (GWAS) and whole-genome sequencing (WGS) studies on centenarians pointed toward the inclusion of the apolipoprotein E (APOE) polymorphisms ε2 and ε4, as implicated in the attainment of extreme longevity, which refers to their effect in age-related Alzheimer’s disease (AD) and cardiovascular disease (CVD). In this case, the available literature on APOE and its involvement in longevity is described according to an anthropological and population genetics perspective. This aims to highlight the evolutionary history of this gene, how its participation in several biological pathways relates to human longevity, and which evolutionary dynamics may have shaped the distribution of APOE haplotypes across the globe. Its potential adaptive role will be described along with implications for the study of longevity in different human groups. This review also presents an updated overview of the worldwide distribution of APOE alleles based on modern day data from public databases and ancient DNA samples retrieved from literature in the attempt to understand the spatial and temporal frame in which present-day patterns of APOE variation evolved. View Full-Text
Keywords: apolipoprotein E; APOE; longevity; populations; genomics apolipoprotein E; APOE; longevity; populations; genomics

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Supplementary material


Share & Cite This Article

MDPI and ACS Style

Abondio, P.; Sazzini, M.; Garagnani, P.; Boattini, A.; Monti, D.; Franceschi, C.; Luiselli, D.; Giuliani, C. The Genetic Variability of APOE in Different Human Populations and Its Implications for Longevity. Genes 2019, 10, 222.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top