On the Estimation of Heritability with Family-Based and Population-Based Samples

Biomed Res Int. 2015;2015:671349. doi: 10.1155/2015/671349. Epub 2015 Aug 3.


For a family-based sample, the phenotypic variance-covariance matrix can be parameterized to include the variance of a polygenic effect that has then been estimated using a variance component analysis. However, with the advent of large-scale genomic data, the genetic relationship matrix (GRM) can be estimated and can be utilized to parameterize the variance of a polygenic effect for population-based samples. Therefore narrow sense heritability, which is both population and trait specific, can be estimated with both population- and family-based samples. In this study we estimate heritability from both family-based and population-based samples, collected in Korea, and the heritability estimates from the pooled samples were, for height, 0.60; body mass index (BMI), 0.32; log-transformed triglycerides (log TG), 0.24; total cholesterol (TCHL), 0.30; high-density lipoprotein (HDL), 0.38; low-density lipoprotein (LDL), 0.29; systolic blood pressure (SBP), 0.23; and diastolic blood pressure (DBP), 0.24. Furthermore, we found differences in how heritability is estimated--in particular the amount of variance attributable to common environment in twins can be substantial--which indicates heritability estimates should be interpreted with caution.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Pressure / genetics*
  • Body Height / genetics*
  • Body Mass Index*
  • Cholesterol / blood
  • Cholesterol / genetics
  • Cholesterol, HDL / blood
  • Cholesterol, HDL / genetics
  • Cholesterol, LDL / blood
  • Cholesterol, LDL / genetics
  • Female
  • Genetics, Population*
  • Humans
  • Male
  • Phenotype
  • Quantitative Trait, Heritable*
  • Regression Analysis
  • Republic of Korea
  • Triglycerides / blood
  • Triglycerides / genetics
  • Twins, Dizygotic / genetics
  • Twins, Monozygotic / genetics


  • Cholesterol, HDL
  • Cholesterol, LDL
  • Triglycerides
  • Cholesterol