Evidence map›Paper›PMID 38374065›Full record

ArticleNature communications2024

Genetic influences on circulating retinol and its relationship to human health.

William R Reay, Dylan J Kiltschewskij, Maria A Di Biase, Zachary F Gerring, Kousik Kundu, Praveen Surendran, Laura A Greco, Erin D Clarke, Clare E Collins, Alison M Mondul and 2 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 19 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 7 institutions in 3 countries.

William R ReaySchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia. william.reay@uon.edu.au.ORCID 0000-0001-7689-2453
Dylan J KiltschewskijSchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia.ORCID 0000-0003-0855-8757
Maria A Di BiaseMelbourne Neuropsychiatry Centre, Department of Psychiatry, The University of Melbourne, Melbourne, VIC, Australia.
Zachary F GerringQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-2445-1266
Kousik KunduHuman Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-1019-8351
Praveen SurendranBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Laura A GrecoSchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia.ORCID 0000-0002-7441-4658
Erin D ClarkeSchool of Health Sciences, The University of Newcastle, Callaghan, NSW, Australia.ORCID 0000-0001-8250-5990
Clare E CollinsSchool of Health Sciences, The University of Newcastle, Callaghan, NSW, Australia.
Alison M MondulDepartment of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA.
Demetrius AlbanesDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD, USA.
Murray J CairnsSchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia. murray.cairns@newcastle.edu.au.ORCID 0000-0003-2490-2538
Hunter Medical Research Institute · AUUniversity of Cambridge · GBBrigham and Women's Hospital · USNational Cancer Institute · USQIMR Berghofer Medical Research Institute · AUThe University of Melbourne · AUUniversity of Michigan · US

Funding

Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) StudyZIACP010195 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI ALBANES, DEMETRIUS · 2009 to 2025
$22.5M
Department of Health | National Health and Medical Research Council (NHMRC) 1121474Department of Health | National Health and Medical Research Council (NHMRC) 1188493Medical Research Council MR/L003120/1Medical Research Council MR/S003746/1Wellcome Trust
6 · The paper itself

Abstract

Retinol is a fat-soluble vitamin that plays an essential role in many biological processes throughout the human lifespan. Here, we perform the largest genome-wide association study (GWAS) of retinol to date in up to 22,274 participants. We identify eight common variant loci associated with retinol, as well as a rare-variant signal. An integrative gene prioritisation pipeline supports novel retinol-associated genes outside of the main retinol transport complex (RBP4:TTR) related to lipid biology, energy homoeostasis, and endocrine signalling. Genetic proxies of circulating retinol were then used to estimate causal relationships with almost 20,000 clinical phenotypes via a phenome-wide Mendelian randomisation study (MR-pheWAS). The MR-pheWAS suggests that retinol may exert causal effects on inflammation, adiposity, ocular measures, the microbiome, and MRI-derived brain phenotypes, amongst several others. Conversely, circulating retinol may be causally influenced by factors including lipids and serum creatinine. Finally, we demonstrate how a retinol polygenic score could identify individuals more likely to fall outside of the normative range of circulating retinol for a given age. In summary, this study provides a comprehensive evaluation of the genetics of circulating retinol, as well as revealing traits which should be prioritised for further investigation with respect to retinol related therapies or nutritional intervention.

Indexed as

Genome-Wide Association StudyVitamin AAdiposityHumansMendelian Randomization AnalysisObesityPhenotypeRetinol-Binding Proteins, PlasmaRBP4 protein, humanRetinol-Binding Proteins, PlasmaVitamin A

Identifiers

PMID38374065
PMCPMC10876955
OpenAlexW4391931422

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.