Simple scaling laws control the genetic architectures of human complex traits

Genome-wide association studies have revealed that the genetic architectures of complex traits vary widely, including in terms of the numbers, effect sizes, and allele frequencies of significant hits. However, at present we lack a principled way of understanding the similarities and differences among traits. Here, we describe a probabilistic model that combines the effects of mutation, drift, and stabilizing selection at individual sites with a genome-scale model of phenotypic variation. In this model, the architecture of a trait arises from the distribution of selection coefficients of mutations and from two scaling parameters. We fit this model for 95 highly polygenic quantitative traits of different kinds from the UK Biobank. Notably, we infer that all these traits have fairly similar, though not identical, distributions of selection coefficients. This similarity suggests that differences in architectures of highly polygenic traits arise mainly from the two scaling parameters: the mutational target size and heritability per site, which vary by orders of magnitude among traits. When these two scale factors are accounted for, we find that the architectures of all 95 traits are very similar.

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Publication Details

Journal
PLoS Biology
Published
2025-10-13
DOI
https://doi.org/10.1371/journal.pbio.3003402
Citations
7
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
12.72

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article

Simple scaling laws control the genetic architectures of human complex traits

Huisheng Zhu, Yuval B. Simons, Guy Sella, Hakhamanesh Mostafavi et al.
7 citations
PLoS Biology
Genetic Associations and Epidemiology
12.72
article

Simple scaling laws control the genetic architectures of human complex traits

Huisheng Zhu, Yuval B. Simons, Guy Sella, Hakhamanesh Mostafavi, Courtney J. Smith, Jonathan K. Pritchard
article en
7 citations

Abstract

Genome-wide association studies have revealed that the genetic architectures of complex traits vary widely, including in terms of the numbers, effect sizes, and allele frequencies of significant hits. However, at present we lack a principled way of understanding the similarities and differences among traits. Here, we describe a probabilistic model that combines the effects of mutation, drift, and stabilizing selection at individual sites with a genome-scale model of phenotypic variation. In this model, the architecture of a trait arises from the distribution of selection coefficients of mutations and from two scaling parameters. We fit this model for 95 highly polygenic quantitative traits of different kinds from the UK Biobank. Notably, we infer that all these traits have fairly similar, though not identical, distributions of selection coefficients. This similarity suggests that differences in architectures of highly polygenic traits arise mainly from the two scaling parameters: the mutational target size and heritability per site, which vary by orders of magnitude among traits. When these two scale factors are accounted for, we find that the architectures of all 95 traits are very similar.

PLoS BiologyVol. 23(10)
University of Chicago (US), Center for Human Genetics (US), New York University (US), Columbia University (US), Stanford University (US)
National Institutes of Health
Openalex Percentile: Top 1%
Genetic Associations and Epidemiology
12.72
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