Poster Presentation GENEMAPPERS 2026

Converging evidence of positive selection at height-associated loci in Europe (#93)

Valentin Hivert 1 , Pierrick Wainschtein 2 , Matthew R. Robinson 3 , Evan K. Irving-Pease 4 5 , Eske Willersev 6 7 8 , Michael E. Goddard 9 10 , William Barrie 11 , Julia Sidorenko 1 12 , Peter M. Visscher 1 4 , Loic Yengo 1
  1. Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
  2. Illumina Artificial Intelligence Laboratory, Illumina Inc., San Diego, California, USA
  3. Institute Of Science and Technology Austria, Klosterneuburg, Austria
  4. Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Population Health, University of Oxford, Oxford, UK
  5. Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK
  6. Lundbeck Foundation GeoGenetics Centre, Globe Institute, University of Copenhagen, Copenhagen, Denmark
  7. GeoGenetics Group, Department of Zoology, University of Cambridge, Cambridge, UK
  8. MARUM Center for Marine Environmental Sciences and Faculty of Geosciences, University of Bremen, Bremen, Germany
  9. Agriculture Victoria Research, AgriBio, 5 Ring Road, Bundoora, VIC, Australia
  10. Faculty of Veterinary & Agricultural Science, University of Melbourne, Parkville, VIC, Australia
  11. Department of Genetics, University of Cambridge, Cambridge, UK
  12. Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia

Human height exhibits pronounced geographic variation across Europe, with individuals from northern populations generally taller than those in the south. While previous studies have claimed natural selection as a driver of this pattern, concerns over residual population stratification in genome-wide association study (GWAS) summary statistics used to draw that inference have cast doubt on this claim. Here, we reassess the contribution of natural selection to height variation by integrating complementary methods and apply them to European ancestry populations. Leveraging high-powered multi-ancestry GWAS datasets, including within-family designs robust to population stratification, and allele frequency data from 13 populations, we detect signatures of positive selection at height-associated loci. These signals persist after accounting for ancient admixture events. Our findings highlight the complexity of polygenic adaptation in humans and reaffirm height as a valuable model trait for studying human evolutionary genomics.