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Record W1433972157 · doi:10.1371/journal.pone.0031369

Genome-Wide Association Study to Identify Common Variants Associated with Brachial Circumference: A Meta-Analysis of 14 Cohorts

2012· article· en· W1433972157 on OpenAlexafffund
Vesna Boraska Perica, Aaron Day-Williams, Christopher S. Franklin, Katherine S. Elliott, Kalliope Panoutsopoulou, Ioanna Tachmazidou, Eva Albrecht, Stefania Bandinelli, Lawrence J. Beilin, Murielle Bochud, Gemma Cadby, Florian Ernst, David M. Evans, Caroline Hayward, Andrew A. Hicks, Jennifer E. Huffman, Cornelia Huth, Norman Klopp, Ivana Kolčić, Zoltán Kutalik, Debbie A. Lawlor, Arthur W. Musk, Marina Pehlić, Craig E. Pennell, John R. B. Perry, Annette Peters, Ozren Polašek, Beaté St Pourcain, Susan M. Ring, Erika Salvi, Sabine Schipf, Jan A. Staessen, Alexander Teumer, Nicholas J. Timpson, Véronique Vitart, Nicole M. Warrington, Hanieh Yaghootkar, Tatijana Zemunik, Lina Zgaga, Ping An, Verneri Anttila, Ingrid B. Borecki, Jostein Holmen, Ιωάννα Ντάλλα, Aarno Palotie, Kirsi H. Pietiläinen, Juho Wedenoja, Bendik S. Winsvold, George Dedoussis, Jaakko Kaprio, Michael A. Province, John‐Anker Zwart, Michel Burnier, Harry Campbell, Daniele Cusi, George Davey Smith, Timothy M. Frayling, Christian Gieger, Lyle J. Palmer, Peter P. Pramstaller, Igor Rudan, Henry Voelzke, H.‐Erich Wichmann, Alan F. Wright, Eleftheria Zeggini

Bibliographic record

VenuePLoS ONE · 2012
Typearticle
Languageen
FieldMedicine
TopicShoulder Injury and Treatment
Canadian institutionsLunenfeld-Tanenbaum Research InstituteOntario Institute for Cancer Research
FundersNational Institute on Minority Health and Health DisparitiesNational Heart, Lung, and Blood InstituteNational Institute on AgingHelse Sør-Øst RHFMedical Research CouncilProvincia autonoma di Bolzano - Alto AdigeMinistero della SaluteNovo Nordisk FondenChinese Society of Clinical OncologySuomen KulttuurirahastoNational Health and Medical Research CouncilBundesministerium für Bildung und ForschungWomen and Infants Research FoundationRaine Medical Research FoundationGlaxoSmithKlineUniversity of BristolCurtin University of TechnologyEuropean CommissionNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungMünchner Zentrum für GesundheitswissenschaftenHealthwayUnity through Knowledge FundWellcome TrustCanadian Institutes of Health ResearchNational Institute of Diabetes and Digestive and Kidney DiseasesWellcomeNational Science Foundation
KeywordsGenome-wide association studyMeta-analysisGenetic associationGeneticsCircumferenceBiologyMedicineSingle-nucleotide polymorphismGenotypeInternal medicineGeneMathematics

Abstract

fetched live from OpenAlex

Brachial circumference (BC), also known as upper arm or mid arm circumference, can be used as an indicator of muscle mass and fat tissue, which are distributed differently in men and women. Analysis of anthropometric measures of peripheral fat distribution such as BC could help in understanding the complex pathophysiology behind overweight and obesity. The purpose of this study is to identify genetic variants associated with BC through a large-scale genome-wide association scan (GWAS) meta-analysis. We used fixed-effects meta-analysis to synthesise summary results across 14 GWAS discovery and 4 replication cohorts comprising overall 22,376 individuals (12,031 women and 10,345 men) of European ancestry. Individual analyses were carried out for men, women, and combined across sexes using linear regression and an additive genetic model: adjusted for age and adjusted for age and BMI. We prioritised signals for follow-up in two-stages. We did not detect any signals reaching genome-wide significance. The FTO rs9939609 SNP showed nominal evidence for association (p<0.05) in the age-adjusted strata for men and across both sexes. In this first GWAS meta-analysis for BC to date, we have not identified any genome-wide significant signals and do not observe robust association of previously established obesity loci with BC. Large-scale collaborations will be necessary to achieve higher power to detect loci underlying BC.

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)0.010
metaresearch head score (Gemma)0.015
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.010
Threshold uncertainty score0.051

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0100.015
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0060.026
Bibliometrics0.0040.006
Science and technology studies0.0010.001
Scholarly communication0.0030.001
Open science0.0010.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0020.000

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 head0.124
GPT teacher head0.343
Teacher spread0.219 · 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 designMeta-analysis
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

Citations0
Published2012
Admission routes2
Has abstractyes

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