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 obser

SUBMITTER: LaBella AL 

PROVIDER: S-EPMC7382462 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature