Per-allele disease and complex trait effect sizes are predominantly African MAF-dependent in European populations

2026-01-02 genetic and genomic medicine Title + abstract only

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Understanding genetic architectures of disease is fundamental to partitioning heritability, polygenic risk prediction, and statistical fine-mapping. Genetic architectures of disease in European populations have been shown to depend on European minor allele frequency (MAF): SNPs with lower MAF have larger per-allele effects, due to the action of negative selection. However, we hypothesized that African MAF (defined using African-ancestry segments in African Americans), which is not distorted by t...

Per-allele disease and complex trait effect sizes are predominantly African MAF-dependent in European populations

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