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Record W2155225646 · doi:10.1093/hmg/ddq560

A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3

2011· article· en· W2155225646 on OpenAlexaff
Robert C. Kaplan, Ann-Kristin Petersen, Ming‐Huei Chen, Alexander Teumer, Nicole L. Glazer, Angela Döring, Carolyn S.P. Lam, Nele Friedrich, Anne B. Newman, Martina Müller‐Nurasyid, Qiong Yang, Georg Homuth, Anne Rentoumis Cappola, Norman Klopp, Holly Smith, Florian Ernst, Bruce M. Psaty, H.‐Erich Wichmann, Douglas B. Sawyer, Reiner Biffar, Jerome I. Rotter, Christian Gieger, Lisa S. Sullivan, Henry Völzke, Kenneth Rice, Ariadni Spyroglou, Heyo K. Kroemer, Y.-D. Ida Chen, Jenny Manolopoulou, Matthias Nauck, Howard D. Strickler, Mark O. Goodarzi, Martín Reincke, Michaël Pollak, Martin Bidlingmaier, Ramachandran S. Vasan, Henri Wallaschofski

Bibliographic record

VenueHuman Molecular Genetics · 2011
Typearticle
Languageen
FieldMedicine
TopicGrowth Hormone and Insulin-like Growth Factors
Canadian institutionsMcGill UniversityJewish General Hospital
FundersNational Center for Advancing Translational SciencesNational Center for Research ResourcesNational Institute on AgingNational Institutes of HealthNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteSchool of Medicine, Boston University
KeywordsIGFBP3BiologyLocus (genetics)Genome-wide association studyGeneticsGenetic associationSingle-nucleotide polymorphismInsulin-like growth factor 2ChromosomeGenePopulationInsulin-like growth factor-binding proteinEndocrinologyInsulin-like growth factorGrowth factorGene expressionGenotype

Abstract

fetched live from OpenAlex

Insulin-like growth factor-I (IGF-I) and insulin-like growth factor-binding protein-3 (IGFBP-3) are involved in cell replication, proliferation, differentiation, protein synthesis, carbohydrate homeostasis and bone metabolism. Circulating IGF-I and IGFBP-3 concentrations predict anthropometric traits and risk of cancer and cardiovascular disease. In a genome-wide association study of 10 280 middle-aged and older men and women from four community-based cohort studies, we confirmed a known association of single nucleotide polymorphisms in the IGFBP3 gene region on chromosome 7p12.3 with IGFBP-3 concentrations using a significance threshold of P < 5 × 10(-8) (P = 3.3 × 10(-101)). Furthermore, the same IGFBP3 gene locus (e.g. rs11977526) that was associated with IGFBP-3 concentrations was also associated with the opposite direction of effect, with IGF-I concentration after adjustment for IGFBP-3 concentration (P = 1.9 × 10(-26)). A novel and independent locus on chromosome 7p12.3 (rs700752) had genome-wide significant associations with higher IGFBP-3 (P = 4.4 × 10(-21)) and higher IGF-I (P = 4.9 × 10(-9)) concentrations; when the two measurements were adjusted for one another, the IGF-I association was attenuated but the IGFBP-3 association was not. Two additional loci demonstrated genome-wide significant associations with IGFBP-3 concentration (rs1065656, chromosome 16p13.3, P = 1.2 × 10(-11), IGFALS, a confirmatory finding; and rs4234798, chromosome 4p16.1, P = 4.5 × 10(-10), SORCS2, a novel finding). Together, the four genome-wide significant loci explained 6.5% of the population variation in IGFBP-3 concentration. Furthermore, we observed a borderline statistically significant association between IGF-I concentration and FOXO3 (rs2153960, chromosome 6q21, P = 5.1 × 10(-7)), a locus associated with longevity. These genetic loci deserve further investigation to elucidate the biological basis for the observed associations and clarify their possible role in IGF-mediated regulation of cell growth and metabolism.

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)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.082
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
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 head0.035
GPT teacher head0.246
Teacher spread0.212 · 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.

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

Citations70
Published2011
Admission routes1
Has abstractyes

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