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Ancient human genomes show that disease-causing mutations have increased in frequency over the past 40,000 years

S. Aris-Brosou

Published 2018 in bioRxiv

ABSTRACT

The role played by natural selection in shaping present-day human populations has received extensive scrutiny [1, 2, 3], especially in the context of local adaptations [4]. However, most studies to date assume, either explicitly or not, that populations have been in their current locations long enough to adapt to local conditions [5], and that they were large enough to allow for the action of selection [6]. If these conditions were satisfied, not only should selection be effective at promoting local adaptations, but deleterious alleles should also be eliminated over time. To test this prediction, the genomes of 2,062 individuals, including 1,179 ancient humans, were reanalyzed to assess how frequencies of risk alleles and their homozygosity changed through space and time in Europe. While the overall deleterious homozygosity consistently decreased, risk alleles have steadily increased in frequency. Those that increased most are associated with diseases such as asthma, Crohn disease, Diabetes Mellitus and obesity, which are prevalent in present-day populations. These findings do not run against the existence of local adaptations, but highlight the limitations imposed by drift and range expansions on the strength of selection in purging the mutational load affecting human populations.

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