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

• 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

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

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)