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Influence of the apolipoprotein E epsilon4 allele on human embryonic development.

Journal article
Authors Henrik Zetterberg
Mona Palmér
Anne Ricksten
Judes Poirier
Lars Palmqvist
Lars Rymo
Alexander Zafiropoulos
Demetrios A Arvanitis
Demetrios A Spandidos
Kaj Blennow
Published in Neuroscience letters
Volume 324
Issue 3
Pages 189-92
ISSN 0304-3940
Publication year 2002
Published at Institute of Clinical Neurosciences, Section of Experimental Neuroscience
Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
Pages 189-92
Language en
Keywords Apolipoprotein E2, Apolipoprotein E3, Apolipoprotein E4, Apolipoproteins E, genetics, metabolism, DNA Mutational Analysis, Embryo, Mammalian, embryology, metabolism, Female, Fetus, embryology, metabolism, Gene Expression Regulation, Developmental, genetics, Gene Frequency, genetics, Genetic Testing, Genotype, Humans, Polymorphism, Genetic, genetics, Pregnancy
Subject categories Clinical Laboratory Medicine, Molecular medicine (genetics and pathology)


Human apolipoprotein E (apoE) exists in three major isoforms encoded by distinct alleles (APOE epsilon2, epsilon3 and epsilon4) and has important functions in nerve development and repair. Inheritance of the 4 allele is a major risk factor for the development of Alzheimer's disease. To investigate the role of APOE polymorphisms in embryonic development, we analyzed the APOE genotypes of 81 spontaneously aborted embryos and 110 adult controls using a solid-phase minisequencing technique. The epsilon4 allele was significantly less frequent in the spontaneous abortion group than in the control group (P=0.009), while the frequency of epsilon3 was significantly increased (P=0.005), suggesting that epsilon4 may have protective effects during embryogenesis. These protective effects might counterbalance the deleterious age-related effects of the epsilon4 allele in natural selection.

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