High frequency of the apo ?4 allele in Khoi San from South Africa

Sandholzer, C.; Delport, Rhena; Vermaak, H.; Utermann, Gerd

doi:10.1007/bf00225073

Cited by 58 publications

(28 citation statements)

References 15 publications

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“…In the present study, associations of APOE genotypes with serum lipids were consistent with the well-identified effects of APOE (33)(34)(35). Several studies have shown that the effect of E*2 in reducing cholesterol levels is two-to four-fold the increasing effect of E*4 (4,5,36), whereas similar effects of both alleles have also been reported (37,38). In Brazilian Caucasians the influence of E*2 was greater than that of E*4.…”

Section: Discussionsupporting

confidence: 91%

Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population

de-Andrade

Larrandaburu

Callegari-Jacques

et al. 2000

Braz J Med Biol Res

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Apolipoprotein E (protein: apo E; gene: APOE) plays an important role in the multifactorial etiology of both Alzheimers disease (AD) and lipid level concentrations. The polymerase chain reaction (PCR) was used to investigate the APOE gene polymorphism in 446 unrelated Caucasians, among them 23 AD patients, and 100 Afro-Brazilians living in Porto Alegre, Brazil. The frequencies of the APOE*2, APOE*3 and APOE*4 alleles were 0.075, 0.810 and 0.115 in Caucasians and 0.075, 0.700 and 0.225 in Afro-Brazilians, respectively (c 2 = 8.72, P = 0.013). A highly significant association was observed between the APOE*4 allele and AD in this population-based sample. The APOE*4 frequency in AD patients (39%) was about four times higher than in the general Caucasian population (11.5%). The influence of each of the three common APOE alleles on lipid traits was evaluated by the use of the average excess statistic. The E*2 allele is associated with lower levels of triglycerides and of total and non-HDL cholesterol in both men and women. Conversely, the E*4 allele is associated with higher levels of these traits in women only. The effect of APOE alleles was of greater magnitude in women.

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Section: Discussionsupporting

confidence: 91%

Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population

de-Andrade

Larrandaburu

Callegari-Jacques

et al. 2000

Braz J Med Biol Res

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“…However, African Americans have as high a prevalence of AD as other Americans and Western peoples [25,33]. The association between apoE genotype and cholesterol concentration may be the result of a Western lifestyle since no association was found in an African Bushmen population with low plasma cholesterol [34]. Similarly, there seems to be no association between the Â4 allele and AD in native Africans [35] although this association was substantial in elderly African Americans [36].…”

Section: Discussionmentioning

confidence: 84%

Serum Total Cholesterol, Apolipoprotein E {FC12}e4 Allele, and Alzheimer’s Disease

Notkola

Sulkava²,

Pekkanen³

et al. 1998

Neuroepidemiology

619

451

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The σ4 allele of the apolipoprotein E (apoE) is associated with Alzheimer’s disease (AD) and also with elevated serum total cholesterol and low-density lipoprotein levels. However, the interrelationships between apoE genotype, plasma cholesterol levels and AD risk have been studied very little. We examined the possible role of serum total cholesterol in the pathogenesis of AD in a population-based sample of 444 men, aged 70–89 years, who were survivors of the Finnish cohorts of the Seven Countries Study. Previous high serum cholesterol level (mean level ≥6.5 mmol/l) was a significant predictor of the prevalence of AD (odds ratio = 3.1; 95% confidence interval = 1.2, 8.5) after controlling for age and the presence of apoE σ4 allele. In men who subsequently developed AD the cholesterol level decreased before the clinical manifestations of AD. We conclude that high serum total cholesterol may be an independent risk factor for AD and some of the effect of the apoE σ4 allele on risk of AD might be mediated through high serum cholesterol.

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“…The apoe3 allele is particularly advantageous in communities where agriculture has been established for a long time. Therefore it is not surprising to find the e4 allele in high frequencies in South African black populations and among the Khoi San, as South African blacks are believed to be more ancient than Caucasians [19] and the Khoi San are one of the oldest populations known [25], being the oldest inhabitants of Southern Africa where they are believed to have lived for at least 20,000 years. Originally hunter-gatherers, most Khoi San now live in settlements.…”

Section: Discussionmentioning

confidence: 99%

Apolipoprotein E genotypes and their relation to lipid levels in a rural South African population 1

Masemola

Alberts

Urdal

2007

Scand J Public Health

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Aims: Genetic variation at the apolipoprotein E (apoE) locus is an important determinant of plasma lipids. The aim of the present study was to evaluate the association between apolipoprotein E genotype and plasma lipid levels among a rural black population in South Africa. Methods: Lipid levels and apoE genotypes were studied in 505 volunteer subjects (363 women, 142 men) resident in the Dikgale demographic surveillance site. Results: Allele frequencies were found to be 0.190 for e2, 0.518 for e3, and 0.293 for e4, indicating a relatively low frequency of the e3 allele and a high frequency of the e4 allele. To determine the effect of apoE polymorphism on lipid levels three groups were formed: namely e2-, e3-, and e4-expressing groups. A significant effect of the apoE genotype on total cholesterol, low-density lipoprotein cholesterol (LDL-C), highdensity lipoprotein cholesterol (HDL-C)/Total cholesterol (TC) ratio, and triglycerides was observed. LDL-C was significantly lower and the HDL-C/TC ratio was significantly higher in the e2 group compared with the e3 and e4 groups. Triglyceride levels were significantly higher in the e2 group than in the e3 group. Conclusions: With the unfavourable apoE allele distribution, and the lifestyle changes taking place in rural South African populations, preventive strategies need to be developed to limit a potential epidemic of cardiovascular disease in the black population of South Africa.

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High frequency of the apo ?4 allele in Khoi San from South Africa

Cited by 58 publications

References 15 publications

Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population

Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population

Serum Total Cholesterol, Apolipoprotein E {FC12}e4 Allele, and Alzheimer’s Disease

Apolipoprotein E genotypes and their relation to lipid levels in a rural South African population 1

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