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 Communjournal_title
Nature communicationsauthors
LaBella AL,Abraham A,Pichkar Y,Fong SL,Zhang G,Muglia LJ,Abbot P,Rokas A,Capra JAdoi
10.1038/s41467-020-17258-6subject
Has Abstractpub_date
2020-07-24 00:00:00pages
3731issue
1issn
2041-1723pii
10.1038/s41467-020-17258-6journal_volume
11pub_type
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