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  • Kasela, SilvaNew York Genome Center, New York, NY, USA; Department of Systems Biology, Columbia University, New York, NY, USA (author)

Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects

  • Article/chapterEnglish2024

Publisher, publication year, extent ...

  • Elsevier BV,2024
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:kth-342191
  • https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-342191URI
  • https://doi.org/10.1016/j.ajhg.2023.11.013DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • QC 20240115
  • Bulk-tissue molecular quantitative trait loci (QTLs) have been the starting point for interpreting disease-associated variants, and context-specific QTLs show particular relevance for disease. Here, we present the results of mapping interaction QTLs (iQTLs) for cell type, age, and other phenotypic variables in multi-omic, longitudinal data from the blood of individuals of diverse ancestries. By modeling the interaction between genotype and estimated cell-type proportions, we demonstrate that cell-type iQTLs could be considered as proxies for cell-type-specific QTL effects, particularly for the most abundant cell type in the tissue. The interpretation of age iQTLs, however, warrants caution because the moderation effect of age on the genotype and molecular phenotype association could be mediated by changes in cell-type composition. Finally, we show that cell-type iQTLs contribute to cell-type-specific enrichment of diseases that, in combination with additional functional data, could guide future functional studies. Overall, this study highlights the use of iQTLs to gain insights into the context specificity of regulatory effects.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Aguet, FrançoisBroad Institute of MIT and Harvard, Cambridge, MA, USA (author)
  • Kim-Hellmuth, SarahNew York Genome Center, New York, NY, USA; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital LMU Munich, Munich, Germany; Computational Health Center, Institute of Translational Genomics, Helmholtz Munich, Neuherberg, Germany (author)
  • Brown, Brielin C.New York Genome Center, New York, NY, USA; Data Science Institute, Columbia University, New York, NY, USA (author)
  • Nachun, Daniel C.Department of Pathology, Stanford University, Stanford, CA, USA (author)
  • Tracy, Russell P.Pathology and Laboratory Medicine, The University of Vermont, Larner College of Medicine, Burlington, VT, USA (author)
  • Durda, PeterPathology and Laboratory Medicine, The University of Vermont, Larner College of Medicine, Burlington, VT, USA (author)
  • Liu, YongmeiDepartment of Medicine, Duke University, Durham, NC, USA (author)
  • Taylor, Kent D.The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA (author)
  • Johnson, W. CraigDepartment of Biostatistics, University of Washington, Seattle, WA, USA (author)
  • Van Den Berg, DavidDepartment of Population and Public Health Sciences, University of Southern California, Los Angeles, CA, USA (author)
  • Gabriel, StaceyBroad Institute of MIT and Harvard, Cambridge, MA, USA (author)
  • Gupta, NamrataBroad Institute of MIT and Harvard, Cambridge, MA, USA (author)
  • Smith, Joshua D.Northwest Genomics Center, University of Washington, Seattle, WA, USA (author)
  • Blackwell, Thomas W.Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA (author)
  • Rotter, Jerome I.The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA (author)
  • Ardlie, Kristin G.Broad Institute of MIT and Harvard, Cambridge, MA, USA (author)
  • Manichaikul, AniCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA (author)
  • Rich, Stephen S.Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA (author)
  • Barr, R. GrahamDepartments of Medicine and Epidemiology, Columbia University Medical Center, New York, NY, USA (author)
  • Lappalainen, TuuliKTH,Genteknologi,Science for Life Laboratory, SciLifeLab,New York Genome Center, New York, NY, USA; Department of Systems Biology, Columbia University, New York, NY, USA(Swepub:kth)u1o81n30 (author)
  • New York Genome Center, New York, NY, USA; Department of Systems Biology, Columbia University, New York, NY, USABroad Institute of MIT and Harvard, Cambridge, MA, USA (creator_code:org_t)

Related titles

  • In:American Journal of Human Genetics: Elsevier BV111:1, s. 133-1490002-92971537-6605

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