Genetic architectures of brain-related traits are shaped by strong selective constraints

Genome-wide association studies (GWAS) have identified hundreds of significant loci for psychiatric disorders, yet the strength of these associations remains modest compared to other human complex traits with similar numbers of hits. Whether this pattern reflects statistical artifacts or real biological differences-and, if the latter, what underlies it-remains unclear. In addition to psychiatric disorders, we find that other traits with functional enrichment in the central nervous system (CNS), whether binary or quantitative, also share similar genetic architectures, characterized by GWAS hits of limited statistical significance and generally higher allele frequencies. In comparing the architecture of binary and quantitative traits, we adjust for statistical power in their respective studies. After this adjustment, we fit an evolutionary model of architecture and show that CNS-enriched traits have large mutational target sizes, with contributing variants and genes experiencing stronger selection than those for other traits. Our findings reveal heterogeneity among complex traits and provide insights into traits that more effectively capture fitness-relevant processes. More broadly, our results suggest that the genetic architectures of complex traits are shaped by the tissues through which these traits are mediated.

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Publication Details

Journal
Proceedings of the National Academy of Sciences
Published
2026-09-01
DOI
https://doi.org/10.1073/pnas.2609814123
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00

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article

Genetic architectures of brain-related traits are shaped by strong selective constraints

Huisheng Zhu, Yuval B. Simons, Guy Sella, Jonathan K. Pritchard et al.
Proceedings of the National Academy of Sciences
Genetic Associations and Epidemiology
article

Genetic architectures of brain-related traits are shaped by strong selective constraints

Huisheng Zhu, Yuval B. Simons, Guy Sella, Jonathan K. Pritchard, Jeffrey P Spence
article en

Abstract

Genome-wide association studies (GWAS) have identified hundreds of significant loci for psychiatric disorders, yet the strength of these associations remains modest compared to other human complex traits with similar numbers of hits. Whether this pattern reflects statistical artifacts or real biological differences-and, if the latter, what underlies it-remains unclear. In addition to psychiatric disorders, we find that other traits with functional enrichment in the central nervous system (CNS), whether binary or quantitative, also share similar genetic architectures, characterized by GWAS hits of limited statistical significance and generally higher allele frequencies. In comparing the architecture of binary and quantitative traits, we adjust for statistical power in their respective studies. After this adjustment, we fit an evolutionary model of architecture and show that CNS-enriched traits have large mutational target sizes, with contributing variants and genes experiencing stronger selection than those for other traits. Our findings reveal heterogeneity among complex traits and provide insights into traits that more effectively capture fitness-relevant processes. More broadly, our results suggest that the genetic architectures of complex traits are shaped by the tissues through which these traits are mediated.

Proceedings of the National Academy of SciencesVol. 123(36)
University of Chicago (US), Center for Human Genetics (US), Genomics (United Kingdom) (GB), Columbia University (US), Stanford University (US)
National Science Foundation, Simons Foundation, National Institutes of Health
Openalex Percentile: Top 78%
Genetic Associations and Epidemiology
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