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Record W3182648508 · doi:10.1007/s00125-021-05491-7

Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control

2021· article· en· W3182648508 on OpenAlexafffund
Johanne Tremblay, Mounsif Haloui, Redha Attaoua, Ramzan Tahir, Camil Hishmih, François Harvey, François-Christophe Marois-Blanchet, Carole Long, Paul Simon, Lara Santucci, Candan Hızel, John Chalmers, Michel Marre, Stephen Harrap, Renata Cífková, Alena Krajčoviechová, David R. Matthews, Bryan Williams, Neil R Poulter, Sophia Zoungas, Stephen Colagiuri, Giuseppe Mancia, Diederick E. Grobbee, Anthony Rodgers, Liusheng Liu, Mawussé Agbessi, Vanessa Bruat, Marie-Julie Favé, Michelle P. Harwood, Philip Awadalla, Mark Woodward, Julie Hussin, Pavel Hamet

Bibliographic record

VenueDiabetologia · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité du QuébecMontreal Heart InstitutePublic Health OntarioOntario Institute for Cancer ResearchUniversité de Montréal
FundersFonds de Recherche du Québec - SantéUniversité de MontréalCanada Research ChairsMinistère de l'Économie, de l’Innovation et des Exportations du QuébecBritish Heart FoundationCanadian Institutes of Health ResearchNational Institute for Health and Care ResearchQuébec Consortium for Drug DiscoveryInstitut de Valorisation des DonnéesMedical Research CouncilInstitut de Cardiologie de MontréalServier
KeywordsMedicineDiabetes mellitusInternal medicineLogistic regressionType 2 diabetesBlood pressureBiobankFramingham Risk ScoreBioinformaticsEndocrinologyDiseaseBiology

Abstract

fetched live from OpenAlex

Abstract Aims/hypothesis Type 2 diabetes increases the risk of cardiovascular and renal complications, but early risk prediction could lead to timely intervention and better outcomes. Genetic information can be used to enable early detection of risk. Methods We developed a multi-polygenic risk score (multiPRS) that combines ten weighted PRSs (10 wPRS) composed of 598 SNPs associated with main risk factors and outcomes of type 2 diabetes, derived from summary statistics data of genome-wide association studies. The 10 wPRS, first principal component of ethnicity, sex, age at onset and diabetes duration were included into one logistic regression model to predict micro- and macrovascular outcomes in 4098 participants in the ADVANCE study and 17,604 individuals with type 2 diabetes in the UK Biobank study. Results The model showed a similar predictive performance for cardiovascular and renal complications in different cohorts. It identified the top 30% of ADVANCE participants with a mean of 3.1-fold increased risk of major micro- and macrovascular events ( p = 6.3 × 10 −21 and p = 9.6 × 10 −31 , respectively) and a 4.4-fold ( p = 6.8 × 10 −33 ) higher risk of cardiovascular death. While in ADVANCE overall, combined intensive blood pressure and glucose control decreased cardiovascular death by 24%, the model identified a high-risk group in whom it decreased the mortality rate by 47%, and a low-risk group in whom it had no discernible effect. High-risk individuals had the greatest absolute risk reduction with a number needed to treat of 12 to prevent one cardiovascular death over 5 years. Conclusions/interpretation This novel multiPRS model stratified individuals with type 2 diabetes according to risk of complications and helped to target earlier those who would receive greater benefit from intensive therapy. Graphical abstract

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)0.000
metaresearch head score (Gemma)0.003
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 score0.300
Threshold uncertainty score0.545

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.003
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 head0.006
GPT teacher head0.226
Teacher spread0.220 · 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

Citations52
Published2021
Admission routes2
Has abstractyes

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