Umeå universitets logga

umu.sePublikationer
Ändra sökning
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitis
Umeå universitet, Medicinska fakulteten, Institutionen för odontologi.ORCID-id: 0000-0002-2779-5865
Visa övriga samt affilieringar
2021 (Engelska)Ingår i: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 29, s. 300-308Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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, sample overlap or complicated by horizontal pleiotropy. The recently described latent causal variable (LCV) approach provides an alternative method for causal inference which might be useful in hypothesis-free experiments across human phenome. 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 causal architecture plot. We apply this pipeline to body mass index (BMI) and lipid traits as exemplars of traits where there is strong prior expectation for causal effects, and to dental caries and periodontitis as exemplars of traits where there is a need for causal inference. The results for lipids and BMI suggest that these traits are best viewed as contributing factors 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. The automated pipeline is implemented in the Complex-Traits Genetics Virtual Lab (https:// vl.genoma.io) and results are available in. We propose causal architecture plots based on phenome-wide partial genetic causality estimates as a new way visualizing the overall causal map of the human phenome.

Ort, förlag, år, upplaga, sidor
Springer Nature, 2021. Vol. 29, s. 300-308
Nationell ämneskategori
Odontologi Medicinsk genetik och genomik
Identifikatorer
URN: urn:nbn:se:umu:diva-176082DOI: 10.1038/s41431-020-00734-4ISI: 000574800000001PubMedID: 33011735Scopus ID: 2-s2.0-85091881730OAI: oai:DiVA.org:umu-176082DiVA, id: diva2:1478201
Tillgänglig från: 2020-10-21 Skapad: 2020-10-21 Senast uppdaterad: 2025-02-10Bibliografiskt granskad

Open Access i DiVA

Fulltext saknas i DiVA

Övriga länkar

Förlagets fulltextPubMedScopus

Person

Lif Holgerson, PernillaJohansson, Ingegerd

Sök vidare i DiVA

Av författaren/redaktören
Lif Holgerson, PernillaRenteria, Miguel E.Johansson, Ingegerd
Av organisationen
Institutionen för odontologi
I samma tidskrift
European Journal of Human Genetics
OdontologiMedicinsk genetik och genomik

Sök vidare utanför DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetricpoäng

doi
pubmed
urn-nbn
Totalt: 330 träffar
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf