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Extreme inbreeding in a European ancestry sample from the contemporary UK population

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Listed:
  • Loic Yengo

    (The University of Queensland)

  • Naomi R. Wray

    (The University of Queensland
    The University of Queensland)

  • Peter M. Visscher

    (The University of Queensland
    The University of Queensland)

Abstract

In most human societies, there are taboos and laws banning mating between first- and second-degree relatives, but actual prevalence and effects on health and fitness are poorly quantified. Here, we leverage a large observational study of ~450,000 participants of European ancestry from the UK Biobank (UKB) to quantify extreme inbreeding (EI) and its consequences. We use genotyped SNPs to detect large runs of homozygosity (ROH) and call EI when >10% of an individual’s genome comprise ROHs. We estimate a prevalence of EI of ~0.03%, i.e., ~1/3652. EI cases have phenotypic means between 0.3 and 0.7 standard deviation below the population mean for 7 traits, including stature and cognitive ability, consistent with inbreeding depression estimated from individuals with low levels of inbreeding. Our study provides DNA-based quantification of the prevalence of EI in a European ancestry sample from the UK and measures its effects on health and fitness traits.

Suggested Citation

  • Loic Yengo & Naomi R. Wray & Peter M. Visscher, 2019. "Extreme inbreeding in a European ancestry sample from the contemporary UK population," Nature Communications, Nature, vol. 10(1), pages 1-11, December.
  • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-11724-6
    DOI: 10.1038/s41467-019-11724-6
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    Cited by:

    1. Jarne, C. & Gómez Albarracín, F.A. & Caruso, M., 2021. "An algorithm to represent inbreeding trees," Physica A: Statistical Mechanics and its Applications, Elsevier, vol. 572(C).

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