Human Genetics

, Volume 95, Issue 1, pp 46–48 | Cite as

High frequency of the apo ɛ4 allele in Khoi San from South Africa

  • C. Sandholzer
  • Rhena Delport
  • Hayward Vermaak
  • G. Utermann
Original Investigation


Variation at the apolipoprotein E (apo E) gene locus affects cholesterol concentrations, the risk for atherosclerosis and Alzheimer disease (AD), and is associated with longevity in Caucasians. We have determined apo E gene frequencies and effects on cholesterol levels in Khoi San (Bushmen) from South Africa. The frequency of the apo ɛ4 allele (0.37), which confers dose-dependent susceptibility to atherosclerosis and AD in Caucasians, was twice as high, and apo E4 homozygotes were 3–5 fold more frequent in the Khoi San (≈ 10%) compared with Caucasians (2%–3%). No significant effect of apo E variation on cholesterol concentration was noted in this non-Westernized population with low plasma cholesterol (mean cholesterol 149 mg/dl). This suggests that Bushmen carry a heavy genetic burden for these late-onset disorders if exposed to a Western lifestyle.


Cholesterol Atherosclerosis Metabolic Disease Cholesterol Level Alzheimer Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • C. Sandholzer
    • 1
  • Rhena Delport
    • 2
  • Hayward Vermaak
    • 2
  • G. Utermann
    • 1
  1. 1.Institute for Medical Biology and Human GeneticsUniversity of InnsbruckInnsbruckAustria
  2. 2.Department of Chemical Pathology. Faculty of MedicineUniversity of PretoriaPretoriaSouth Africa

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