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

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.

journal_name

Nat Commun

journal_title

Nature communications

authors

LaBella AL,Abraham A,Pichkar Y,Fong SL,Zhang G,Muglia LJ,Abbot P,Rokas A,Capra JA

doi

10.1038/s41467-020-17258-6

subject

Has Abstract

pub_date

2020-07-24 00:00:00

pages

3731

issue

1

issn

2041-1723

pii

10.1038/s41467-020-17258-6

journal_volume

11

pub_type

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