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Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study

2015· article· en· W605291159 on OpenAlexfundno aff
Søren Dinesen Østergaard, Shubhabrata Mukherjee, Stephen J. Sharp, Petroula Proitsi, Luca A. Lotta, Felix R. Day, John R. B. Perry, Kevin L. Boehme, Stefan Walter, John Kauwe, Laura E. Gibbons, Eric B. Larson, John Powell, Claudia Langenberg, Paul K. Crane, Nicholas J. Wareham, Robert A. Scott

Bibliographic record

VenuePLoS Medicine · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersNational Center for Research ResourcesNational Institute of Environmental Health SciencesNational Institute of Neurological Disorders and StrokeNational Institute of Diabetes and Digestive and Kidney DiseasesNational Institute of Allergy and Infectious DiseasesNational Institute of Biomedical Imaging and BioengineeringNational Human Genome Research InstituteNational Institute of Mental HealthUniversity College London Hospitals NHS Foundation TrustHelmholtz Zentrum MünchenNational Center for Advancing Translational SciencesEconomic and Social Research CouncilAstraZenecaEuropean CommissionGenentechNational Institutes of HealthHeinz Nixdorf StiftungDana FoundationH. Lundbeck A/SMedical Research CouncilNational Institute of Child Health and Human DevelopmentEli Lilly and CompanyHersenstichtingKing's College LondonUniversitat de BarcelonaCanadian Institutes of Health ResearchAlzheimer's SocietyStichting MS ResearchMedpaceBundesministerium für Bildung und ForschungNewcastle UniversityUniversity of CambridgeNational Institute on AgingNational Institute for Health and Care ResearchAlzheimer's AssociationEuropean Federation of Pharmaceutical Industries and AssociationsAlfried Krupp von Bohlen und Halbach-StiftungNational Cancer InstituteLundbeckfondenHoward Hughes Medical InstituteCardiff UniversityAlzheimer's Research TrustSynarcSouth London and Maudsley NHS Foundation TrustF. Hoffmann-La RocheMenzies Centre for Australian Studies, King's College London, University of LondonU.S. Department of Veterans AffairsElanOffice of Research and DevelopmentGlaxoSmithKlinePfizerNovartisWellcome TrustNorth Bristol NHS TrustBristol-Myers SquibbJuvenile Diabetes Research Foundation InternationalEisai
KeywordsMendelian randomizationAlzheimer's diseaseDiseaseMedicineDementiaGerontologyBioinformaticsBiologyInternal medicineGeneticsGeneGenetic variantsGenotype

Abstract

fetched live from OpenAlex

BACKGROUND: Potentially modifiable risk factors including obesity, diabetes, hypertension, and smoking are associated with Alzheimer disease (AD) and represent promising targets for intervention. However, the causality of these associations is unclear. We sought to assess the causal nature of these associations using Mendelian randomization (MR). METHODS AND FINDINGS: We used SNPs associated with each risk factor as instrumental variables in MR analyses. We considered type 2 diabetes (T2D, NSNPs = 49), fasting glucose (NSNPs = 36), insulin resistance (NSNPs = 10), body mass index (BMI, NSNPs = 32), total cholesterol (NSNPs = 73), HDL-cholesterol (NSNPs = 71), LDL-cholesterol (NSNPs = 57), triglycerides (NSNPs = 39), systolic blood pressure (SBP, NSNPs = 24), smoking initiation (NSNPs = 1), smoking quantity (NSNPs = 3), university completion (NSNPs = 2), and years of education (NSNPs = 1). We calculated MR estimates of associations between each exposure and AD risk using an inverse-variance weighted approach, with summary statistics of SNP-AD associations from the International Genomics of Alzheimer's Project, comprising a total of 17,008 individuals with AD and 37,154 cognitively normal elderly controls. We found that genetically predicted higher SBP was associated with lower AD risk (odds ratio [OR] per standard deviation [15.4 mm Hg] of SBP [95% CI]: 0.75 [0.62-0.91]; p = 3.4 × 10(-3)). Genetically predicted higher SBP was also associated with a higher probability of taking antihypertensive medication (p = 6.7 × 10(-8)). Genetically predicted smoking quantity was associated with lower AD risk (OR per ten cigarettes per day [95% CI]: 0.67 [0.51-0.89]; p = 6.5 × 10(-3)), although we were unable to stratify by smoking history; genetically predicted smoking initiation was not associated with AD risk (OR = 0.70 [0.37, 1.33]; p = 0.28). We saw no evidence of causal associations between glycemic traits, T2D, BMI, or educational attainment and risk of AD (all p > 0.1). Potential limitations of this study include the small proportion of intermediate trait variance explained by genetic variants and other implicit limitations of MR analyses. CONCLUSIONS: Inherited lifetime exposure to higher SBP is associated with lower AD risk. These findings suggest that higher blood pressure--or some environmental exposure associated with higher blood pressure, such as use of antihypertensive medications--may reduce AD risk.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation 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 score0.007
Threshold uncertainty score0.438

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.052
GPT teacher head0.300
Teacher spread0.248 · 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 teacher head, 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".

Quick stats

Citations221
Published2015
Admission routes1
Has abstractyes

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