Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci

Abigail L. LaBella, Abin Abraham, Yakov Pichkar, Sarah L. Fong, Ge Zhang, Louis J. Muglia, Patrick Abbot, Antonis Rokas () and John A. Capra ()
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Abigail L. LaBella: Vanderbilt University
Abin Abraham: Vanderbilt University
Yakov Pichkar: Vanderbilt University
Sarah L. Fong: Vanderbilt University
Ge Zhang: Division of Human Genetics, Cincinnati Children’s Hospital Medical Center
Louis J. Muglia: Division of Human Genetics, Cincinnati Children’s Hospital Medical Center
Patrick Abbot: Vanderbilt University
Antonis Rokas: Vanderbilt University
John A. Capra: Vanderbilt University

Nature Communications, 2020, vol. 11, issue 1, 1-12

Abstract: Abstract Currently, there is no comprehensive framework to evaluate the evolutionary forces acting on genomic regions associated with human complex traits and contextualize the relationship between evolution and molecular function. Here, we develop an approach to test for signatures of diverse evolutionary forces on trait-associated genomic regions. We apply our method to regions associated with spontaneous preterm birth (sPTB), a complex disorder of global health concern. We find that sPTB-associated regions harbor diverse evolutionary signatures including conservation, excess population differentiation, accelerated evolution, and balanced polymorphism. Furthermore, we integrate evolutionary context with molecular evidence to hypothesize how these regions contribute to sPTB risk. Finally, we observe enrichment in signatures of diverse evolutionary forces in sPTB-associated regions compared to genomic background. By quantifying multiple evolutionary forces acting on sPTB-associated regions, our approach improves understanding of both functional roles and the mosaic of evolutionary forces acting on loci. Our work provides a blueprint for investigating evolutionary pressures on complex traits.

Date: 2020
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-17258-6

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DOI: 10.1038/s41467-020-17258-6

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