title: High frequency of the apo epsilon 4 allele in Khoi San from South Africa.
abstract: 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 epsilon 4 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 (approximately 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.
authors: Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
authors: C
authors: C
authors: Sandholzer
authors: R
authors: R
authors: Delport
authors: H
authors: H
authors: Vermaak
authors: G
authors: G
authors: Utermann
mesh_terms: D000328:Adult; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D013019:South Africa
chemical_list: D001057:Apolipoproteins E; D002784:Cholesterol