Quantitative Human Paleogenetics: what can ancient DNA tell us about complex trait evolution?

TL;DR

This paper reviews how ancient DNA can inform us about the evolution of complex traits in humans, highlighting recent advances, challenges, and the need for improved models to interpret ancient genomic data.

Contribution

It discusses the integration of ancient genomes into quantitative genetic studies and addresses current limitations in inferring complex trait evolution from ancient DNA.

Findings

Ancient DNA provides direct insights into past allele frequencies.

Current models face challenges in accurately predicting traits across populations.

Limitations exist in validating phenotypic predictions for ancient individuals.

Abstract

Genetic association data from national biobanks and large-scale association studies have provided new prospects for understanding the genetic evolution of complex traits and diseases in humans. In turn, genomes from ancient human archaeological remains are now easier than ever to obtain, and provide a direct window into changes in frequencies of trait-associated alleles in the past. This has generated a new wave of studies aiming to analyse the genetic component of traits in historic and prehistoric times using ancient DNA, and to determine whether any such traits were subject to natural selection. In humans, however, issues about the portability and robustness of complex trait inference across different populations are particularly concerning when predictions are extended to individuals that died thousands of years ago, and for which little, if any, phenotypic validation is possible. In this review, we discuss the advantages of incorporating ancient genomes into studies of trait-associated variants, the need for models that can better accommodate ancient genomes into quantitative genetic frameworks, and the existing limits to inferences about complex trait evolution, particularly with respect to past populations.