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Record W2137284096 · doi:10.1371/journal.pgen.1000768

A Genome-Wide Association Study Reveals Variants in ARL15 that Influence Adiponectin Levels

2009· review· en· W2137284096 on OpenAlexafffund
J. Brent Richards, Dawn Waterworth, Stephen O’Rahilly, Marie‐France Hivert, Ruth J. F. Loos, John R. B. Perry, Toshiko Tanaka, Nicholas J. Timpson, Robert K. Semple, Nicole Soranzo, Kijoung Song, Nuno Rocha, Elin Grundberg, Josée Dupuis, Jose C. Florez, Claudia Langenberg, Inga Prokopenko, Richa Saxena, Robert Sladek, Yurii S. Aulchenko, David M. Evans, Gérard Waeber, Jeanette Erdmann, Mary-Susan Burnett, Naveed Sattar, Joseph M. Devaney, Christina Willenborg, Aroon D. Hingorani, Péter Vollenweider, Beate Glaser, Christian Hengstenberg, Luigi Ferrucci, David Melzer, Klaus Stark, John Deanfield, Janina Winogradow, Martina Grassl, Alistair S. Hall, Josephine M. Egan, John R. Thompson, Sally L. Ricketts, Inke R. König, Wibke Reinhard, Scott M. Grundy, H‐Erich Wichmann, Phil Barter, Robert W. Mahley, Y. Antero Kesäniemi, Daniel J. Rader, Muredach P. Reilly, Stephen E. Epstein, Alexandre F.R. Stewart, Cornelia M. van Duijn, Heribert Schunkert, Keith Burling, Panos Deloukas, Tomi Pastinen, Nilesh J. Samani, Ruth McPherson, George Davey Smith, Timothy M. Frayling, Nicholas J. Wareham, James B. Meigs, Vincent Mooser, Tim D. Spector

Bibliographic record

VenuePLoS Genetics · 2009
Typereview
Languageen
FieldMedicine
TopicAdipokines, Inflammation, and Metabolic Diseases
Canadian institutionsUniversity of OttawaMcGill UniversityMcGill University and Génome Québec Innovation CentreJewish General Hospital
FundersNational Center for Research ResourcesNational Eye InstituteNational Heart, Lung, and Blood InstituteNIHR Cambridge Biomedical Research CentreMedical Research CouncilGlaxoSmithKlineDirectorate for Biological SciencesNational Institutes of HealthUppsala UniversitetChildren's Hospital of PhiladelphiaKing's College LondonBritish Heart FoundationSchool of Medicine, Boston UniversityHelsingin YliopistoGenome CanadaBundesministerium für Bildung und ForschungNational Institute for Health and Care ResearchMassachusetts General HospitalNational Research CentreBiotechnology and Biological Sciences Research CouncilCancer Research UKWellcome TrustUniversity of PennsylvaniaDeutsche ForschungsgemeinschaftUniversity of BristolCanadian Institutes of Health ResearchAmerican Diabetes AssociationNational Institute of Diabetes and Digestive and Kidney DiseasesSanofi
KeywordsAdiponectinSingle-nucleotide polymorphismGenome-wide association studyBiologySNPOdds ratioInternal medicineType 2 diabetesAlleleGenetic associationEndocrinologyGeneticsDiabetes mellitusInsulin resistanceMedicineGenotypeGene

Abstract

fetched live from OpenAlex

The adipocyte-derived protein adiponectin is highly heritable and inversely associated with risk of type 2 diabetes mellitus (T2D) and coronary heart disease (CHD). We meta-analyzed 3 genome-wide association studies for circulating adiponectin levels (n = 8,531) and sought validation of the lead single nucleotide polymorphisms (SNPs) in 5 additional cohorts (n = 6,202). Five SNPs were genome-wide significant in their relationship with adiponectin (P< or =5x10(-8)). We then tested whether these 5 SNPs were associated with risk of T2D and CHD using a Bonferroni-corrected threshold of P< or =0.011 to declare statistical significance for these disease associations. SNPs at the adiponectin-encoding ADIPOQ locus demonstrated the strongest associations with adiponectin levels (P-combined = 9.2x10(-19) for lead SNP, rs266717, n = 14,733). A novel variant in the ARL15 (ADP-ribosylation factor-like 15) gene was associated with lower circulating levels of adiponectin (rs4311394-G, P-combined = 2.9x10(-8), n = 14,733). This same risk allele at ARL15 was also associated with a higher risk of CHD (odds ratio [OR] = 1.12, P = 8.5x10(-6), n = 22,421) more nominally, an increased risk of T2D (OR = 1.11, P = 3.2x10(-3), n = 10,128), and several metabolic traits. Expression studies in humans indicated that ARL15 is well-expressed in skeletal muscle. These findings identify a novel protein, ARL15, which influences circulating adiponectin levels and may impact upon CHD 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 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)0.001
metaresearch head score (Gemma)0.002
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: Review · Consensus signal: none
Teacher disagreement score0.003
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0010.001
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 head0.065
GPT teacher head0.327
Teacher spread0.262 · 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
GenreReview

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

Citations172
Published2009
Admission routes2
Has abstractyes

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