Abstract

The Afrikaner population was founded mainly by European immigrants that arrived in South Africa from 1652. However, female slaves from Asia and Africa and local KhoeSan women may have contributed as much as 7% to this population’s genes. We quantified variation at two tandem repeats to see if this historical founder effect and/or admixture could be detected. The two loci were chosen because they are in the promoters of genes of neurotransmitters that are known to be correlated with social behaviour. Specifically, arginine vasopressin receptor 1A’s (AVPR1A) RS3 locus has been shown to correlate with age of sexual onset and happiness in monogamous relationships while the tandem repeat in the promoter of the monoamine oxidase A (MAOA) gene correlates with reactive aggression. The Afrikaner population contained more AVPR1A RS3 alleles than other Caucasoid populations, potentially reflecting a history of admixture. Even though Afrikaners have one of the lowest recorded non-paternity rates in the world, the population did not differ at AVPR1A RS3 locus form other European populations, suggesting a non-genetic explanation, presumably religion, for the low non-paternity rate. By comparing population allele-frequency spectra it was found that different studies have confused AVPR1A RS3 alleles and we make some suggestions to rectify these mistakes in future studies. While MAOA allele frequencies differed between racial groups, the Afrikaner population showed no evidence of admixture. In fact, Afrikaners had more 4-repeat alleles than other populations of European origin, not fewer. The 4-repeat allele may have been selected for during colonisation.

Highlights

  • Arginine vasopressin receptor 1A’s (AVPR1A) RS3 locus has been shown to correlate with age of sexual onset and happiness in monogamous relationships while the tandem repeat in the promoter of the monoamine oxidase A (MAOA)

  • While MAOA allele frequencies differed between racial groups, the Afrikaner population showed no evidence of admixture

  • As many as 5000 European men settled at the Cape between and 1866.6 As most of the immigrants were men, they occasionally married non-European women[6,7] who were either slaves from Africa and India or local Khoe and San (KhoeSan) women[6,7,8,9]

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Summary

Introduction

KEYWORDS: The Afrikaner population of South Africa derives from about the same proportion of German, French and Dutch immigrants that came to the Cape from 1652 to 1806.1 Because the number of immigrants was finite, the Afrikaner population is considered a textbook example of a founder effect[2], with many genetic diseases in overabundance compared with European populations[3,4,5]. However, as many as 5000 European men settled at the Cape between and 1866.6 As most of the immigrants were men, they occasionally married non-European women[6,7] who were either slaves from Africa and India (including Indonesia and East Asia) or local Khoe and San (KhoeSan) women[6,7,8,9]. This practice is reflected genetically by the presence of non-European alleles in the Afrikaner population.[10]HOW TO CITE: The Afrikaner population fought several local wars against the KhoeSan, Xhosa, Zulus and British. It could be argued that these aggressive encounters may have been frequent and severe enough to have left traces of selection on the population. One gene that may have played an important role in this regard is monoamine oxidase A (MAOA)

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