The 82nd Annual Meeting of the American Association of Physical Anthropologists (2013)

Using ancient DNA to investigate genetic adaptation to high altitude stressors in Andean populations


1Department of Zoology and Anthropology, Georg-August-University Goettingen, 2Department of Anthropology, Yale University

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The evolution of Andean highland cultures is highly dependent on the populations’ ability to adapt to physical stressors of high-elevation environments. The genetic basis of adaptation to high altitudes is still poorly understood. By now, several associated genes but only few directly associated SNPs have been identified. An additional problem is that the possibility to infer processes of selection using DNA from modern indigenous South American populations might be obscured by admixture events due to the European colonisation or pre-Columbian gene flow.

To test if adaptation to high altitudes has led to selective change of allele frequencies we analyze pre-Columbian highland and coastal populations from southern Peru. We analyze a total of three SNPs, one of which is located in the NOS3 gene and has been associated with AMS susceptibility. For the other two SNPs, located in the EGLN1gene, a strong selective pressure has been detected in Andean populations. SNPs are genotyped via multiplex SBE assay, allowing for the simultaneous determination of the three SNPs.

It was possible to reproducibly determine the genotypes of n = 37 high-altitude individuals and n = 26 low-altitude individuals. The comparison of the allele frequencies revealed a significant difference between highland and coastal populations for the NOS3 SNP (rs1799983) and one of the EGLN1 SNPs (rs1769813). The results suggest a selective effect on the allele frequencies due to the permanent settling above 2500 masl. However, it cannot be fully excluded that the observed differences result from differential population histories.

This research is funded by the German Research Foundation (DFG, Grant Number: FE1161/1-1)

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