The contemporary European genetic makeup formed in the last 8,000 years when local Western Hunter-Gatherers (WHGs) mixed with incoming Anatolian Neolithic farmers and Pontic Steppe pastoralists.1–3 This encounter combined genetic variants with distinct evolutionary histories and, together with new environmental challenges faced by the post-Neolithic Europeans, unlocked novel adaptations.4 Previous studies inferred phenotypes in these source populations, using either a few single loci5–7 or polygenic scores based on genome-wide association studies,8–10 and investigated the strength and timing of natural selection on lactase persistence or height, among others.6,11,12 However, how ancient populations contributed to present-day phenotypic variation is poorly understood. Here, we investigate how the unique tiling of genetic variants inherited from different ancestral components drives the complex traits landscape of contemporary Europeans and quantify selection patterns associated with the...

Ancestral genomic contributions to complex traits in contemporary Europeans

Marnetto, Davide
First
;
2022-01-01

Abstract

The contemporary European genetic makeup formed in the last 8,000 years when local Western Hunter-Gatherers (WHGs) mixed with incoming Anatolian Neolithic farmers and Pontic Steppe pastoralists.1–3 This encounter combined genetic variants with distinct evolutionary histories and, together with new environmental challenges faced by the post-Neolithic Europeans, unlocked novel adaptations.4 Previous studies inferred phenotypes in these source populations, using either a few single loci5–7 or polygenic scores based on genome-wide association studies,8–10 and investigated the strength and timing of natural selection on lactase persistence or height, among others.6,11,12 However, how ancient populations contributed to present-day phenotypic variation is poorly understood. Here, we investigate how the unique tiling of genetic variants inherited from different ancestral components drives the complex traits landscape of contemporary Europeans and quantify selection patterns associated with the...
2022
32
6
1
8
Estonia; Europe; Human genetics; ancestry; biobank; complex traits; population genetics
Marnetto, Davide; Pankratov, Vasili; Mondal, Mayukh; Montinaro, Francesco; Pärna, Katri; Vallini, Leonardo; Molinaro, Ludovica; Saag, Lehti; Loog, Lii...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1849311
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