American Journal of Medical Genetics · 1989 · 61 citations · 5 references
Life SciencesCardiologyGeneticsGenetic EpidemiologyHuman GeneticsMedical GeneticsCardiovascular DiseaseCardiovascular EpidemiologyCholesterol MetabolismCoronary Artery DiseaseFamilial HypercholesterolemiaGenetic RiskAdult PrevalenceCoronary Heart Disease EpidemiologyHeterozygous Familial HypercholesterolemiaHigh-density Lipoprotein Cholesterol MeasurementHomozygous Familial HypercholesterolemiaLow-density Lipoprotein Cholesterol MeasurementPlasma Cholesterol Levels
The prevalence of heterozygous familial hypercholesterolemia was determined in a representative sample of 403 young Jewish men resident in Johannesburg, South Africa. Preliminary screening by measurement of serum total cholesterol demonstrated that 25 of them had levels greater than or equal to 7.5 mmol/l (290 mg/dl). On the basis of subsequent clinical, biochemical, and family studies, 6 men, or about 1 in 67 of the total sample, were considered to be heterozygotes. This very high prevalence, about 7 times greater than that found in other Caucasian populations, is probably related to founder effect. It may help to explain the high frequency of coronary heart disease in Johannesburg Jews.
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A host of hypercholesterolaemic homozygotes in South Africa.
H C Seftel, S G Baker, Maurice Sandler et al. · BMJ · 1980 · 153 citations · Full text
Medicine, Cardiology, Genetics +13
Arno G. Motulsky · New England Journal of Medicine · 1976 · 91 citations
Medicine, Cardiology, Genetics +13
Gaucher's disease in South Africa.
Jack Goldblatt, Peter Beighton · Journal of Medical Genetics · 1979 · 17 citations · Full text