Evidence map›Paper›PMID 40499537›Full record

ArticleAmerican journal of human genetics2025

Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples.

Valeria Añorve-Garibay, Emilia Huerta-Sanchez, Mashaal Sohail, Diego Ortega-Del Vecchyo

Abstract read
In one paragraph

Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Polygenic prediction of human complex traits using ancient DNA.Current opinion in genetics & development · 2025
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Valeria Añorve-GaribayCenter for Computational Molecular Biology, Brown University, Providence, RI 02912, USA; Laboratorio Internacional de Investigación sobre el Genoma Humano (LIIGH), Universidad Nacional Autónoma de México (UNAM), Juriquilla, Querétaro, México.
Emilia Huerta-SanchezCenter for Computational Molecular Biology, Brown University, Providence, RI 02912, USA; Department of Ecology, Evolution and Organismal Biology, Brown University, Providence, RI, USA.
Mashaal SohailCentro de Ciencias Genómicas (CCG), Universidad Nacional Autónoma de México (UNAM), Cuernavaca, Morelos, México. Electronic address: mashaal@ccg.unam.mx.
Diego Ortega-Del VecchyoLaboratorio Internacional de Investigación sobre el Genoma Humano (LIIGH), Universidad Nacional Autónoma de México (UNAM), Juriquilla, Querétaro, México. Electronic address: dortega@liigh.unam.mx.

Funding

Characterizing modes of natural selection via diverse ancient and modern samplesR35GM128946 · NIGMS · BROWN UNIVERSITY · PI Emilia Huerta-Sanchez · 2018 to 2026
$3.1M
A genome-wide genealogical framework for statistical and population genetic analysisR01HG012605 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Charleston Chiang · 2023 to 2026
$2.1M
NHGRI NIH HHS R01 HG012605NIGMS NIH HHS R35 GM128946
6 · The paper itself

Abstract

The prediction of phenotypes from ancient humans has gained interest due to its potential to investigate the evolution of complex traits. These predictions are commonly performed using polygenic scores computed with DNA information from ancient humans along with genome-wide association study (GWAS) data from present-day humans. However, numerous evolutionary processes could impact these phenotypic predictions. In this work, we investigate how natural selection shapes the temporal dynamics of variants with an effect on the trait and how these changes impact phenotypic predictions for ancient individuals using polygenic scores. We find that stabilizing selection accelerates the loss of large-effect alleles contributing to trait variation. Conversely, directional selection accelerates the loss of small- and large-effect alleles that drive individuals farther away from the optimal phenotypic value. These phenomena result in specific shared genetic variation patterns between ancient and modern populations that hamper the accuracy of polygenic scores to predict phenotypes. Our results assume perfectly estimated effect sizes at the causal loci of complex traits segregating in a GWAS performed in the present and, therefore, provide a putatively loose upper bound on the polygenic score portability to predict traits in the past. Furthermore, we show how natural selection could impact the predictive accuracy of ancient polygenic scores for two widely studied traits: height and body mass index. Our results emphasize the importance of considering decreases on the reliability of polygenic scores to perform phenotypic predictions in ancient individuals due to allele frequency changes driving the loss of alleles via natural selection.

Indexed as

Multifactorial InheritanceSelection, GeneticAllelesGenetic VariationGenome-Wide Association StudyHumansModels, GeneticPhenotypePolymorphism, Single Nucleotideancient DNAcomplex traitsphenotypic predictionspolygenic scores

Identifiers

PMID40499537
PMCPMC12256831

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.