High frequency of the apolipoprotein E *4 allele in African pygmies and most of the African populations in sub-Saharan Africa

Hum Biol. 1997 Aug;69(4):575-81.


Apolipoprotein E genotypes (alleles *2, *3, and *4) have been determined in 70 Aka Pygmies and 470 unrelated African sub-Saharan subjects. Allele frequencies for Pygmies are 5.7% for APOE*2, 53.6% for APOE*3, and 40.7% for APOE*4, and the global proportions for sub-Saharan subjects are 11.6% for APOE*2, 70.6% for APOE*3, and 17.8% for APOE*4. The frequencies in some ethnic groups are statistically different from the overall mean in the Afar and the Isa, the Ewe (Togo), the Malinke (Guinea), and the Mossi; three ethnic groups have a higher allele frequency of APOE*4 (Fon, 29.4%; Zairians, 33.3%; Tutsi, 38.5%). The APOE*4 allele is considered the ancestral form because of its high frequency in African Pygmies and other aboriginal populations.

MeSH terms

  • Africa South of the Sahara
  • African Continental Ancestry Group / genetics*
  • Alleles
  • Apolipoproteins E / genetics*
  • Continental Population Groups
  • Gene Frequency*
  • Genotype
  • Humans
  • Oceanic Ancestry Group / genetics*


  • Apolipoproteins E