Abstract for presentation at 11th International Congress of Human Genetics

Estimation of heritability from actual genetic relationships of 5000 sibling pairs

  • Prof Peter Visscher, Queensland Institute of Medical Research, Australia
  • Dr Sarah Medland, Queensland Institute of Medical Research, Australia
  • Dr Manuel Ferreira, Queensland Institute of Medical Research, Australia
  • Katherine Morley, Queensland Institute of Medical Research, Australia
  • Gu Zhu, Queensland Institute of Medical Research, Australia
  • Belinda Cornes, Queensland Institute of Medical Research, Australia
  • Dr Jouke Hottenga, Vrije Universiteit Amsterdam, The Netherlands
  • Dr Gonneke Willemsen, Vrije Universiteit Amsterdam, The Netherlands
  • Prof Dorret Boomsma, Vrije Universteit, Amsterdam, The Netherlands
  • Grant Montgomery, Queensland Institute of Medical Research, Australia
  • Nicholas Martin, Queensland Institute of Medical Research, Australia

    • The estimation of additive and dominance genetic variance in populations is based upon the expected proportion of genes shared between different types of relatives and explicit, often controversial and untestable, models of genetic and non-genetic causes of family resemblance. With genome-wide coverage of genetic markers it is now possible to estimate such parameters solely within families using the actual degree of identity-by-descent sharing between relatives. Using genome scans on 4,919 quasi-independent sib pairs with phenotypes, we estimated the heritability of height from empirical genome-wide IBD sharing which varied from 0.37 to 0.62 (mean 0.50, SD 0.04). The variance in genome-wide sharing per chromosome and genome-wide was consistent with theory. The maximum likelihood estimate of the narrow-sense heritability for height was 0.81 (SE 0.07) with no evidence for non-genetic causes of sib resemblance, consistent with results from independent twin and family studies but using an entirely separate source of information. Our application shows that it is feasible to estimate genetic variance solely from within-family segregation and provides an independent validation of previously untestable assumptions.

    Conference Organiser - ICMS Pty Ltd