The heritability of human disease: estimation, uses and abuses

Nat Rev Genet. 2013 Feb;14(2):139-49. doi: 10.1038/nrg3377.


Relatives provide the basic material for the study of inheritance of human disease. However, the methodologies for the estimation of heritability and the interpretation of the results have been controversial. The debate arises from the plethora of methods used, the validity of the methodological assumptions and the inconsistent and sometimes erroneous genetic interpretations made. We will discuss how to estimate disease heritability, how to interpret it, how biases in heritability estimates arise and how heritability relates to other measures of familial disease aggregation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bias
  • Disease / genetics*
  • Environment
  • Female
  • Genetic Association Studies / statistics & numerical data
  • Genetic Predisposition to Disease
  • Humans
  • Linear Models
  • Male
  • Models, Genetic
  • Models, Statistical
  • Pedigree
  • Twin Studies as Topic / statistics & numerical data