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Record W3198896451 · doi:10.3389/fgene.2021.690335

Association of Genetic Variants With Body-Mass Index and Blood Pressure in Adolescents: A Replication Study

2021· article· en· W3198896451 on OpenAlexafffund
Danick Goulet, Jennifer O’Loughlin, Marie‐Pierre Sylvestre

Bibliographic record

VenueFrontiers in Genetics · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsCentre Hospitalier de l’Université de MontréalUniversité de Montréal
FundersFonds de Recherche du Québec - SantéUniversité de MontréalCancer Research Society
KeywordsBody mass indexBlood pressureSingle-nucleotide polymorphismAnthropometryMedicineGenetic architectureBiologyInternal medicineGeneticsPhysiologyQuantitative trait locusGeneGenotype

Abstract

fetched live from OpenAlex

The strong correlation between adiposity and blood pressure (BP) might be explained in part by shared genetic risk factors. A recent study identified three nucleotide variants [rs16933812 (PAX5), rs7638110 (MRPS22), and rs9930333 (FTO)] associated with both body mass index (BMI) and systolic blood pressure (SBP) in adolescents age 12–18years. We attempted to replicate these findings in a sample of adolescents of similar age. A total of 713 adolescents were genotyped and had anthropometric indicators and blood pressure measured at age 13, 15, 17, and 24years. Using linear mixed models, we assessed associations of these variants with BMI and SBP. In our data, rs9930333 (FTO) was associated with body mass index, but not systolic blood pressure. Neither rs16933812 (PAX5) nor rs7638110 (MRPS22) were associated with body mass index or systolic blood pressure. Although, differences in phenotypic definitions and in genetic architecture across populations may explain some of the discrepancy across studies, nucleotide variant selection in the initial study may have led to false-positive results that could not be replicated.

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)0.005
metaresearch head score (Gemma)0.011
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 score0.010
Threshold uncertainty score0.028

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.011
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0000.001
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.005
GPT teacher head0.229
Teacher spread0.224 · 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".

Quick stats

Citations2
Published2021
Admission routes2
Has abstractyes

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