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Record W3104598639 · doi:10.1101/2020.11.09.20227801

Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a Mendelian randomization analysis using outcomes in first-degree relatives

2020· preprint· en· W3104598639 on OpenAlexaff
Tom G. Richardson, Qin Wang, Eleanor Sanderson, Anubha Mahajan, Mark I McCarthy, Timothy M. Frayling, Mika Ala‐Korpela, Allan D. Sniderman, George Davey Smith, Michael V. Holmes

Bibliographic record

VenuemedRxiv · 2020
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill University
FundersInnovative Medicines InitiativeNovo Nordisk FondenUniversity of BristolEuropean CommissionBritish Heart FoundationNational Institute for Health and Care ResearchUK Research and InnovationMedical Research CouncilNovo NordiskEuropean Federation of Pharmaceutical Industries and Associations
KeywordsMendelian randomizationApolipoprotein BFirst-degree relativesMedicineInternal medicineType 2 diabetesDiabetes mellitusEndocrinologyFamily historyGeneticsBiologyCholesterolGenetic variantsGene

Abstract

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Abstract Background Apolipoprotein B (apoB) is emerging as the lipoprotein entity that is critical for the role that lipoprotein lipids play in the aetiology of coronary heart disease (CHD). In this study, we explored effects of genetically-predicted apoB on endpoints in first-degree relatives. Methods Univariable Mendelian randomization (MR) used a weighted genetic instrument (229 SNPs) for apoB. For endpoints that apoB associated with at FDR <5%, multivariable MR analyses including genetic instruments for LDL-C and triglycerides. Estimates are inferred causal effects per 1-SD elevated lipoprotein trait (for apoB, 1-SD= 0.24 g/L). Replication of estimates for longevity and T2D was conducted using conventional two-sample MR using summary estimates from GWAS consortia. Findings Parents were less likely to be alive with 10.7 months of life lost in fathers (95%CI: 7.6, 13.9; FDR-adjusted P=4.0×10 −10 ) and 5.8 months of life lost in mothers (95%CI: 3.0, 8.52; FDR-adjusted P=1.7×10 −4 ) per 1-SD higher apoB in offspring. Effects strengthened to ∼2 yrs of life lost in multivariable MR and replicated in conventional two-sample MR (OR surviving to 90 th centile: 0.38; 95%CI: 0.22, 0.65). Genetically-elevated apoB caused higher risks of heart disease in all first-degree relatives and higher risk of stroke in mothers. Findings in first-degree relatives were replicated in two-sample multivariable MR which identified apoB to increase (OR 2.32; 95%CI: 1.49, 3.61) and LDL-C lower (OR 0.34; 95%CI: 0.21, 0.54) risk of T2D. Interpretation Higher apoB shortens the lifespan, and increases risks of heart disease and stroke. T2D effects may represent injurious effects of dyslipidaemia to pancreatic islets. Research in Context Evidence before this study Prior observational and Mendelian randomization studies have indicated that circulating concentrations of apoB are of critical importance to lipid-mediated atherogenesis, manifest as coronary heart disease. Added value of this study In this study, we explored the effects of genetically-predicted elevations in apoB on multiple endpoints occuring in first degree relatives including longevity and sought replication of findings using more conventional methods to exploit the statistical power from data available in large-scale GWAS consortia. We identified that apoB had a deleterious effect on longevity, shortening the lifespan by months to years. Furthermore, apoB caused higher risks of CHD and stroke in first degree relatives. Finally, apoB was identified to increase risk of T2D, in contradistinction to LDL-C which lowered risk of T2D, when employing multivairable MR methods. Implications of all the available evidence Our findings support apoB as being the major lipoprotein entity critical for CHD and stroke and extends this to identify higher apoB as negatively impacting longevity and increasing risk of T2D. These findings highlight the critical role of apoB in causing cardiometabolic disease, which collectively shortens the lifespan.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.038
metaresearch head score (Gemma)0.041
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.038
Threshold uncertainty score0.202

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0380.041
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0030.008
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0020.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0060.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.070
GPT teacher head0.328
Teacher spread0.258 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

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Citations0
Published2020
Admission routes1
Has abstractyes

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