Detecting the dominance component of heritability in isolated and outbred human populations

Anthony F. Herzig, Teresa Nutile, Daniela Ruggiero, Marina Ciullo, Hervé Perdry, Anne Louise Leutenegger

Research output: Contribution to journalArticlepeer-review


Inconsistencies between published estimates of dominance heritability between studies of human genetic isolates and human outbred populations incite investigation into whether such differences result from particular trait architectures or specific population structures. We analyse simulated datasets, characteristic of genetic isolates and of unrelated individuals, before analysing the isolate of Cilento for various commonly studied traits. We show the strengths of using genetic relationship matrices for variance decomposition over identity-by-descent based methods in a population isolate and that heritability estimates in isolates will avoid the downward biases that may occur in studies of samples of unrelated individuals; irrespective of the simulated distribution of causal variants. Yet, we also show that precise estimates of dominance in isolates are demonstrably problematic in the presence of shared environmental effects and such effects should be accounted for. Nevertheless, we demonstrate how studying isolates can help determine the existence or non-existence of dominance for complex traits, and we find strong indications of non-zero dominance for low-density lipoprotein level in Cilento. Finally, we recommend future study designs to analyse trait variance decomposition from ensemble data across multiple population isolates.

Original languageEnglish
Article number18048
JournalScientific Reports
Issue number1
Publication statusPublished - Dec 1 2018

ASJC Scopus subject areas

  • General


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