Evidence mapPaperPMID 40488801Full record

ArticleEuropean journal of epidemiology2025

Search for common genetic variants to allow reliable Mendelian randomization investigations into ketone metabolism.

Zhu Liduzi Jiesisibieke, Héléne Toinét Cronjé, C Mary Schooling, Stephen Burgess

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Article in European journal of epidemiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Zhu Liduzi JiesisibiekeSchool of Public Health, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, China.
Héléne Toinét CronjéMRC Biostatistics Unit, University of Cambridge, Cambridge, UK.
C Mary SchoolingSchool of Public Health, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, China.
Stephen BurgessMRC Biostatistics Unit, University of Cambridge, Cambridge, UK. sb452@medschl.cam.ac.uk.ORCID http://orcid.org/0000-0001-5365-8760

Funding

Research and Innovation Medical Research MC_UU_00040/01University of Hong Kong University of Hong KongWellcome Trust 225790Wellcome Trust 225790/Z/22/Z
6 · The paper itself

Abstract

Ketogenic diets are popular among people aiming for weight management. Ketone supplementation has been linked to improved cognitive performance and increased risk of insulin resistance. We aim to identify common genetic variants that allow Mendelian randomization investigations into further potential effects of ketone metabolism. We set four premises that we believe any valid instrument for ketone metabolism should satisfy. These are: (1) location in a gene region relevant to ketone metabolism, (2) association with all three primary ketone bodies (acetone, acetoacetate, and beta-hydroxybutyrate), (3) no pleiotropic associations, (4) associations with positive control variables (cognitive performance, two-hour glucose, and insulin fold change). We considered gene regions containing variants previously associated with acetone. Four of these regions had biological relevance to ketone metabolism. Lead variants for three of these four regions (SLC2A4, HMGCS2, OXCT1) were associated with all three primary ketone bodies. One region (SLC2A4) was associated with two-hour glucose and insulin fold change; however, this region had strong pleiotropic associations with blood pressure. One region (OXCT1) showed an association with cognitive performance, and thus satisfied all our premises to be a valid instrument for ketone metabolism. In a complementary agnostic approach considering all genome-wide significant predictors of the three primary ketone bodies in turn, genetically predicted acetoacetate based on seven variants was associated with improved cognitive performance. However, several variants selected in this approach were not located in biologically relevant gene regions and were pleiotropic. Causal claims from Mendelian randomization will be most reliable when the instrumental variable assumptions are plausibly satisfied. We illustrate a framework to identify candidate instruments based on biological considerations.

Indexed as

Genetic VariationKetone BodiesKetonesMendelian Randomization Analysis3-Hydroxybutyric AcidAcetoacetatesAcetoneDiet, KetogenicFemaleHumansMalePolymorphism, Single Nucleotide3-Hydroxybutyric AcidAcetoacetatesacetoacetic acidAcetoneKetone BodiesKetonesCognitive performanceGenetic variant selectionInstrumental variable validityKetones

Identifiers

PMID40488801
PMCPMC12263766

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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.