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BioMed Research International
Volume 2015 (2015), Article ID 671349, 9 pages
Research Article

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

1The Center for Genome Science, Korea National Institute of Health, KCDC, Osong 361-951, Republic of Korea
2Department of Applied Statistics, Chung-Ang University, Seoul 156-756, Republic of Korea
3Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul 151-742, Republic of Korea
4Chunlab Inc., Seoul National University, Seoul 151-742, Republic of Korea
5Department of Epidemiology, Seoul National University, Seoul 151-742, Republic of Korea
6Department of Preventive Medicine, Ajou University School of Medicine, Suwon 443-380, Republic of Korea
7Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106-7281, USA
8Department of Epidemiology and Biostatistics, School of Public Health & Institute of Health and Environment, Seoul National University, Seoul 151-742, Republic of Korea

Received 22 November 2014; Revised 16 April 2015; Accepted 21 April 2015

Academic Editor: Kristel van Steen

Copyright © 2015 Youngdoe Kim et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.