Rare penetrant mutations confer severe risk of common diseases

Science. 2023 Jun 2;380(6648):eabo1131. doi: 10.1126/science.abo1131. Epub 2023 Jun 2.

Abstract

We examined 454,712 exomes for genes associated with a wide spectrum of complex traits and common diseases and observed that rare, penetrant mutations in genes implicated by genome-wide association studies confer ~10-fold larger effects than common variants in the same genes. Consequently, an individual at the phenotypic extreme and at the greatest risk for severe, early-onset disease is better identified by a few rare penetrant variants than by the collective action of many common variants with weak effects. By combining rare variants across phenotype-associated genes into a unified genetic risk model, we demonstrate superior portability across diverse global populations compared with common-variant polygenic risk scores, greatly improving the clinical utility of genetic-based risk prediction.

MeSH terms

  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Multifactorial Inheritance*
  • Mutation
  • Penetrance*
  • Phenotype
  • Risk Factors