On the relationship between the heritability and the attributable fraction

Hum Genet. 2019 Apr;138(4):425-435. doi: 10.1007/s00439-019-02006-8. Epub 2019 Apr 2.

Abstract

Heritability is the most commonly used measure of genetic contribution to disease outcomes. Being the fraction of the variance of latent trait liability attributable to genetic factors, heritability of binary traits is a difficult technical concept that is sometimes misinterpreted as the more-easily understandable concept of attributable fraction. In this paper we use the liability threshold model to describe the analytical relationship between heritability and attributable fraction. Towards this end, we consider a hypothetical intervention that is aimed to reduce the genetic risk of the disease for a specified target group of the population. We show how the relation between the heritability and the attributable fraction depends on the disease prevalence, the intervention effect and the size of the target group. We use two real examples to illustrate the practical implications of our theoretical results.

MeSH terms

  • Causality
  • Disease / etiology
  • Disease / genetics
  • Genetic Predisposition to Disease / epidemiology*
  • Humans
  • Models, Genetic*
  • Models, Statistical*
  • Multifactorial Inheritance*
  • Phenotype
  • Population Density
  • Prevalence
  • Quantitative Trait, Heritable*
  • Risk Factors
  • Sample Size