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Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences
Author(s) -
Noah A. Rosenberg,
Michael D. Edge,
Jonathan K. Pritchard,
Marcus W. Feldman
Publication year - 2018
Publication title -
evolution medicine and public health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 22
ISSN - 2050-6201
DOI - 10.1093/emph/eoy036
Subject(s) - trait , biology , polygene , multifactorial inheritance , adaptation (eye) , quantitative trait locus , population , phenotype , evolutionary biology , genetics , demography , gene , genotype , single nucleotide polymorphism , neuroscience , sociology , computer science , programming language
Recent analyses of polygenic scores have opened new discussions concerning the genetic basis and evolutionary significance of differences among populations in distributions of phenotypes. Here, we highlight limitations in research on polygenic scores, polygenic adaptation and population differences. We show how genetic contributions to traits, as estimated by polygenic scores, combine with environmental contributions so that differences among populations in trait distributions need not reflect corresponding differences in genetic propensity. Under a null model in which phenotypes are selectively neutral, genetic propensity differences contributing to phenotypic differences among populations are predicted to be small. We illustrate this null hypothesis in relation to health disparities between African Americans and European Americans, discussing alternative hypotheses with selective and environmental effects. Close attention to the limitations of research on polygenic phenomena is important for the interpretation of their relationship to human population differences.

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