The Impact of Population Demography and Selection on the Genetic Architecture of Complex Traits

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Abstract

Many human populations have dramatically expanded over the last several thousand years. I use population genetic models to investigate how recent population expansions affect patterns of mutations that reduce reproductive fitness and contribute to the genetic basis of complex traits (including common disease). I show that recent population growth increases the proportion of mutations found in the population that reduce fitness. When mutations that have the greatest effect on reproductive fitness also have the greatest effect on a complex trait, more of the heritability of the trait is due to mutations at very low-frequency in populations that have recently expanded, as compared to populations that have not. Also, under this model, for a given sample size and false-positive rate, fewer variants show statistically significant associations with the trait in the population that has expanded than in one that has not. Both of these findings suggest that recent population growth may make it more difficult to fully elucidate the genetic basis of complex traits that are directly or indirectly correlated with reproductive fitness.

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APA

Lohmueller, K. E. (2014). The Impact of Population Demography and Selection on the Genetic Architecture of Complex Traits. PLoS Genetics, 10(5). https://doi.org/10.1371/journal.pgen.1004379

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