MétaCan
Menu
Back to cohort
Record W4379877956 · doi:10.1038/s41588-023-01408-9

Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

2023· article· en· W4379877956 on OpenAlexaff
Alice Williamson, Dougall M. Norris, Xianyong Yin, K. Alaine Broadaway, Anne H. Moxley, Swarooparani Vadlamudi, Emma P Wilson, Anne Jackson, Vasudha Ahuja, Mette K. Andersen, Zorayr Arzumanyan, Lori L. Bonnycastle, Stefan R. Bornstein, Maxi Pia Bretschneider, Thomas A. Buchanan, Yi‐Cheng Chang, Lee‐Ming Chuang, Ren‐Hua Chung, Tine D. Clausen, Peter Damm, Graciela E. Delgado, Vanessa D. de Mello, Josée Dupuis, Om Prakash Dwivedi, Michael R. Erdos, Lilian Fernandes Silva, Timothy M. Frayling, Christian Gieger, Mark O. Goodarzi, Xiuqing Guo, Stefan Gustafsson, Liisa Hakaste, Ulf Hammar, Gad Hatem, Sandra M. Herrmann, Kurt Højlund, Katrin Horn, Willa A. Hsueh, Yi‐Jen Hung, Chii‐Min Hwu, Anna Jonsson, Line Lund Kårhus, Marcus E. Kleber, Péter Kovács, Timo A. Lakka, Marie Lauzon, I‐Te Lee, Cecilia M. Lindgren, Jaana Lindström, Allan Linneberg, Ching‐Ti Liu, Jian’an Luan, Dina Mansour Aly, Elisabeth R. Mathiesen, Angela P. Moissl, Andrew P. Morris, Narisu Narisu, Nikolaos Perakakis, Annette Peters, Rashmi B. Prasad, Roman N. Rodionov, Kathryn Roll, Carsten F. Rundsten, Chloé Sarnowski, Kai Savonen, Markus Scholz, Sapna Sharma, Sara Stinson, Sufyan Suleman, Jingyi Tan, Kent D. Taylor, Matti Uusitupa, Dorte Vistisen, Daniel R. Witte, Romy Walther, Peitao Wu, Anny H. Xiang, Björn Zethelius, Emma Ahlqvist, Richard N. Bergman, Yii‐Der Ida Chen, Francis S. Collins, Tove Fall, José C. Florez, Andreas Fritsche, Harald Grallert, Leif Groop, Torben Hansen, Heikki A. Koistinen, Pirjo Komulainen, Markku Laakso, Lars Lind, Markus Loeffler, Winfried März, James B. Meigs, Leslie J. Raffel, Rainer Rauramaa, Jerome I. Rotter, Peter E. H. Schwarz, Michael Stümvoll, Johan Sundström, Anke Tönjes, Jaakko Tuomilehto, Róbert Wágner, Inês Barroso, Mark Walker, Niels Grarup, Michael Boehnke, Nicholas J. Wareham, Karen L. Mohlke, Eleanor Wheeler, Stephen O’Rahilly, Daniel J. Fazakerley, Claudia Langenberg

Bibliographic record

VenueNature Genetics · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill University
FundersSteno Diabetes Center AarhusCommon FundNational Institute of Neurological Disorders and StrokeAbbott DiagnosticsBayerNational Cancer InstituteQuest DiagnosticsNational Institute on AgingBayer VitalNational Institutes of HealthNIH Office of the DirectorNovo Nordisk FondenSteno Diabetes Center CopenhagenDanoneNational Institute of General Medical SciencesNational Institute on Drug AbuseNovo NordiskNational Human Genome Research InstituteNational Institute of Diabetes and Digestive and Kidney DiseasesSanofiNational Center for Advancing Translational SciencesMedical Research CouncilAstraZenecaNational Institute of Mental HealthNational Heart, Lung, and Blood InstitutePfizerAmgen
KeywordsBiologyGenome-wide association studyCandidate geneGeneGeneticsGenetic associationInsulinGenomeComputational biologySingle-nucleotide polymorphismBiotechnologyGenotype

Abstract

fetched live from OpenAlex

Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin action dominates. Here we studied genetic variants influencing insulin levels measured 2 h after a glucose challenge in >55,000 participants from three ancestry groups. We identified ten new loci (P < 5 × 10−8) not previously associated with postchallenge insulin resistance, eight of which were shown to share their genetic architecture with type 2 diabetes in colocalization analyses. We investigated candidate genes at a subset of associated loci in cultured cells and identified nine candidate genes newly implicated in the expression or trafficking of GLUT4, the key glucose transporter in postprandial glucose uptake in muscle and fat. By focusing on postprandial insulin resistance, we highlighted the mechanisms of action at type 2 diabetes loci that are not adequately captured by studies of fasting glycemic traits. Genome-wide association analyses of two oral glucose tolerance test-derived measures of postprandial insulin resistance discover ten new loci. Functional characterization identifies nine candidate genes implicated in the regulation of GLUT4.

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)0.002
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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0020.002
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 head0.012
GPT teacher head0.265
Teacher spread0.253 · 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

Citations74
Published2023
Admission routes1
Has abstractno

Explore more

Same venueNature GeneticsSame topicGenetic Associations and EpidemiologyFrench-language works237,207