Parent-of-origin effects on quantitative phenotypes in a large Hutterite pedigree View Full Text


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Article Info

DATE

2019-12

AUTHORS

Sahar V. Mozaffari, Jeanne M. DeCara, Sanjiv J. Shah, Carlo Sidore, Edoardo Fiorillo, Francesco Cucca, Roberto M. Lang, Dan L. Nicolae, Carole Ober

ABSTRACT

The impact of the parental origin of associated alleles in GWAS has been largely ignored. Yet sequence variants could affect traits differently depending on whether they are inherited from the mother or the father, as in imprinted regions, where identical inherited DNA sequences can have different effects based on the parental origin. To explore parent-of-origin effects (POEs), we studied 21 quantitative phenotypes in a large Hutterite pedigree to identify variants with single parent (maternal-only or paternal-only) effects, and then variants with opposite parental effects. Here we show that POEs, which can be opposite in direction, are relatively common in humans, have potentially important clinical effects, and will be missed in traditional GWAS. We identified POEs with 11 phenotypes, most of which are risk factors for cardiovascular disease. Many of the loci identified are characteristic of imprinted regions and are associated with the expression of nearby genes. More... »

PAGES

28

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s42003-018-0267-4

    DOI

    http://dx.doi.org/10.1038/s42003-018-0267-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1111502076

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30675526


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