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Somers M, Olde Loohuis LM, Aukes MF, et al. A Genetic Population Isolate in The Netherlands Showing Extensive Haplotype Sharing and Long Regions of Homozygosity. Genes (Basel). 2017;8(5)doi: 10.3390/genes8050133.
Somers, M., Olde Loohuis, L. M., Aukes, M. F., Pasaniuc, B., de Visser, K. C. L., Kahn, R. S., Sommer, I. E., & Ophoff, R. A. (2017). A Genetic Population Isolate in The Netherlands Showing Extensive Haplotype Sharing and Long Regions of Homozygosity. Genes, 8(5), . https://doi.org/10.3390/genes8050133
Somers, Metten, et al. "A Genetic Population Isolate in The Netherlands Showing Extensive Haplotype Sharing and Long Regions of Homozygosity." Genes vol. 8,5 (2017). doi: https://doi.org/10.3390/genes8050133
Somers M, Olde Loohuis LM, Aukes MF, Pasaniuc B, de Visser KCL, Kahn RS, Sommer IE, Ophoff RA. A Genetic Population Isolate in The Netherlands Showing Extensive Haplotype Sharing and Long Regions of Homozygosity. Genes (Basel). 2017 May 04;8(5). doi: 10.3390/genes8050133. PMID: 28471380; PMCID: PMC5448007.
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Genes (Basel). 2017 May 04;8(5). doi: 10.3390/genes8050133.

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

Genes

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

Affiliations

  1. Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands. [email protected].
  2. Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA 90095, USA. [email protected].
  3. Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands. [email protected].
  4. Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles, CA 90095, USA. [email protected].
  5. Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA. [email protected].
  6. Department of General Practice, University Medical Center Groningen, University of Groningen, Groningen 9713 GZ, The Netherland. [email protected].
  7. Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands. [email protected].
  8. Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands. [email protected].
  9. Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands. [email protected].
  10. Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA 90095, USA. [email protected].
  11. Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles, CA 90095, USA. [email protected].

PMID: 28471380 PMCID: PMC5448007 DOI: 10.3390/genes8050133

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.

Keywords: IBD sharing; effective population size; genetic isolate; linkage disequilibrium; runs of homozygosity

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