BioMed Research International, 2015, 01, 1─9

On the estimation of heritability with family-based and population-based samples

Youngdoe Kim, Young Lee, Sungyoung Lee, Nam Hee Kim, Jeongmin Lim, Young Jin Kim, Ji Hee Oh, Haesook Min, Meehee Lee, Hyeon-Jeong Seo, So-Hyun Lee, Joohon Sung, Nam H. Cho, Bong-Jo Kim, Bok-Ghee Han, Robert C. Elston, Sungho Won, Juyoung Lee

Abstract

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 populationbased 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

• ISBN or ISSN: 2314-6133

• 본 연구는 질병관리본부 연구개발과제(과제번호 2013-NG73002-00) 연구비를 지원받아 수행되었습니다.
• This research was supported by a fund(code 2013-NG73002-00) by Research of Korea Centers for Disease Control and Prevention.