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Record W2122203297 · doi:10.1093/hmg/ddq156

Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes

2010· article· en· W2122203297 on OpenAlexafffund
Lu Qi, Marilyn C. Cornelis, Peter Kraft, Kristopher J. Stanya, W.H. Linda Kao, James S. Pankow, Josée Dupuis, José C. Florez, Caroline S. Fox, Guillaume Paré, Qi Sun, Cynthia J. Girman, Cathy C. Laurie, Daniel B. Mirel, Teri A. Manolio, Daniel I. Chasman, Eric Boerwinkle, Paul M. Ridker, David J. Hunter, James B. Meigs, Chih‐Hao Lee, Rob M. van Dam, Frank B. Hu

Bibliographic record

VenueHuman Molecular Genetics · 2010
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcMaster University
FundersNational Center for Research ResourcesNational Institute of Dental and Craniofacial ResearchNational Institute of Environmental Health SciencesNational Human Genome Research InstituteNational Institute on Drug AbuseNational Heart, Lung, and Blood InstituteNational Cancer InstituteNational Institute on Alcohol Abuse and AlcoholismAmerican Heart AssociationCanadian Institutes of Health ResearchU.S. Public Health ServiceNational Institutes of HealthFondation LeducqBroad InstituteNational Institute of Diabetes and Digestive and Kidney DiseasesJohns Hopkins UniversityAmgenSchool of Medicine, Boston UniversityMassachusetts General HospitalDonald W. Reynolds Foundation
KeywordsBiologyGenome-wide association studyType 2 diabetesLocus (genetics)GeneticsInsulin resistanceAlleleSNPGenetic associationSingle-nucleotide polymorphismCase-control studyGeneDiabetes mellitusInternal medicineEndocrinologyGenotypeMedicine

Abstract

fetched live from OpenAlex

To identify type 2 diabetes (T2D) susceptibility loci, we conducted genome-wide association (GWA) scans in nested case-control samples from two prospective cohort studies, including 2591 patients and 3052 controls of European ancestry. Validation was performed in 11 independent GWA studies of 10,870 cases and 73,735 controls. We identified significantly associated variants near RBMS1 and ITGB6 genes at 2q24, best-represented by SNP rs7593730 (combined OR=0.90, 95% CI=0.86-0.93; P=3.7x10(-8)). The frequency of the risk-lowering allele T is 0.23. Variants in this region were nominally related to lower fasting glucose and HOMA-IR in the MAGIC consortium (P<0.05). These data suggest that the 2q24 locus may influence the T2D risk by affecting glucose metabolism and insulin resistance.

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)0.001
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.608
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
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 head0.012
GPT teacher head0.253
Teacher spread0.241 · 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

Citations198
Published2010
Admission routes2
Has abstractyes

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