Concepts, estimation and interpretation of SNP-based heritability

Nat Genet. 2017 Aug 30;49(9):1304-1310. doi: 10.1038/ng.3941.


Narrow-sense heritability (h2) is an important genetic parameter that quantifies the proportion of phenotypic variance in a trait attributable to the additive genetic variation generated by all causal variants. Estimation of h2 previously relied on closely related individuals, but recent developments allow estimation of the variance explained by all SNPs used in a genome-wide association study (GWAS) in conventionally unrelated individuals, that is, the SNP-based heritability (). In this Perspective, we discuss recently developed methods to estimate for a complex trait (and genetic correlation between traits) using individual-level or summary GWAS data. We discuss issues that could influence the accuracy of , definitions, assumptions and interpretations of the models, and pitfalls of misusing the methods and misinterpreting the models and results.

MeSH terms

  • Concept Formation
  • Data Interpretation, Statistical*
  • Genome-Wide Association Study / standards
  • Genome-Wide Association Study / statistics & numerical data*
  • Humans
  • Models, Genetic
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Quantitative Trait, Heritable*
  • Reproducibility of Results
  • Statistics as Topic* / methods
  • Statistics as Topic* / standards