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  • Haworth, Simon (author)

Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

  • BookEnglish2019

Publisher, publication year, extent ...

  • Cold Spring Harbor Laboratory,2019
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:umu-168741
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-168741URI
  • https://doi.org/10.1101/865956DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:vet swepub-contenttype
  • Subject category:ovr swepub-publicationtype

Notes

  • Background: Hypothesis-free Mendelian randomization studies provide a way to assess the causal relevance of a trait across the human phenome but can be limited by statistical power or complicated by horizontal pleiotropy. The recently described latent causal variable (LCV) approach provides an alternative method for casual inference which might be useful in hypothesis-free experiments.Methods: We developed an automated pipeline for phenome-wide tests using the LCV approach including steps to estimate partial genetic causality, filter to a meaningful set of estimates, apply correction for multiple testing and then present the findings in a graphical summary termed a causal architecture plot. We apply this process to body mass index and lipid traits as exemplars of traits where there is strong prior expectation for causal effects and dental caries and periodontitis as exemplars of traits where there is a need for causal inference.Results: The results for lipids and BMI suggest that these traits are best viewed as creating consequences on a multitude of traits and conditions, thus providing additional evidence that supports viewing these traits as targets for interventions to improve health. On the other hand, caries and periodontitis are best viewed as a downstream consequence of other traits and diseases rather than a cause of ill health.Conclusions: The automated process is available as part of the MASSIVE pipeline from the Complex-Traits Genetics Virtual Lab (https://vl.genoma.io) and results are available in (https://view.genoma.io). We propose causal architecture plots based on phenome-wide partial genetic causality estimates as a way visualizing the overall causal map of the human phenome.

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

  • Fang Kho, Pik (author)
  • Lif Holgerson, PernillaUmeå universitet,Institutionen för odontologi(Swepub:umu)pealin91 (author)
  • Hwang, Liang-Dar (author)
  • Timpson, Nicholas J. (author)
  • Rentería, Miguel E. (author)
  • Johansson, IngegerdUmeå universitet,Institutionen för odontologi(Swepub:umu)injo0003 (author)
  • Cuellar-Partida, Gabriel (author)
  • Umeå universitetInstitutionen för odontologi (creator_code:org_t)

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