A Genetic Population Isolate in The Netherlands Showing Extensive Haplotype Sharing and Long Regions of Homozygosity

Metten Somers, Loes M. Olde Loohuis, Maartje F. Aukes, Bogdan Pasaniuc, Kees C. L. de Visser, Rene S. Kahn, Iris E. Sommer, Roel A. Ophoff*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

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    Abstract

    Genetic isolated populations have features that may facilitate genetic analyses and can be leveraged to improve power of mapping genes to complex traits. Our aim was to test the extent to which a population with a former history of geographic isolation and religious endogamy, and currently with one of the highest fertility rates in The Netherlands, shows signs of genetic isolation. For this purpose, genome-wide genotype data was collected of 72 unrelated individuals from this population as well as in a sample of 104 random control subjects from The Netherlands. Additional reference data from different populations and population isolates was available through HapMap and the Human Genome Diversity Project. We performed a number of analyses to compare the genetic structure between these populations: we calculated the pairwise genetic distance between populations, examined the extent of identical-by-descent (IBD) sharing and estimated the effective population size. Genetic analysis of this population showed consistent patterns of a population isolate at all levels tested. We confirmed that this population is most closely related to the Dutch control subjects, and detected high levels of IBD sharing and runs of homozygosity at equal or even higher levels than observed in previously described population isolates. The effective population size of this population was estimated to be several orders of magnitude smaller than that of the Dutch control sample. We conclude that the geographic isolation of this population combined with rapid population growth has resulted in a genetic isolate with great potential value for future genetic studies.

    Original languageEnglish
    Article number133
    Pages (from-to)1-14
    Number of pages15
    JournalGenes
    Volume8
    Issue number5
    DOIs
    Publication statusPublished - 4-May-2017

    Keywords

    • genetic isolate
    • linkage disequilibrium
    • runs of homozygosity
    • IBD sharing
    • effective population size
    • WHOLE-GENOME ASSOCIATION
    • LINKAGE DISEQUILIBRIUM
    • DUTCH POPULATION
    • COMPLEX TRAITS
    • DEMOGRAPHIC HISTORY
    • LOW-FREQUENCY
    • IDENTIFICATION
    • DIVERSITY
    • MUTATION
    • DISEASE

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