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Record W1251718005 · doi:10.1038/ng.782

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

2011· article· en· W1251718005 on OpenAlexaff
John F. Peden, Jemma C. Hopewell, Danish Saleheen, John C. Chambers, Jörg Hager, Nicole Soranzo, Rory Collins, John Danesh, Paul Elliott, Martin Farrall, Kathy Stirrups, Weihua Zhang, Anders Hamsten, Sarah Parish, Mark Lathrop, Hugh Watkins, Robert Clarke, Panos Deloukas, Jaspal S. Kooner, Anuj Goel, Halit Ongen, Rona J. Strawbridge, Simon Heath, Anders Mälarstig, Anna Helgadóttir, John Öhrvik, Muhammed Murtaza, Simon Potter, Sarah Hunt, Marc Délepine, Shapour Jalilzadeh, Tomas Axelsson, Ann‐Christine Syvänen, Rhian Gwilliam, Suzannah Bumpstead, Emma Gray, Sarah Edkins, Lasse Folkersen, Theodosios Kyriakou, Anders Franco‐Cereceda, Anders Gabrielsen, Udo Seedorf, Per Eriksson, Alison Offer, Louise Bowman, Peter Sleight, Jane Armitage, Richard Peto, Gonçalo R. Abecasis, Nabeel Ahmed, Mark J. Caulfield, Peter Donnelly, Philippe Froguel, Angad S. Kooner, Mark I. McCarthy, Nilesh J. Samani, Berthold Lausen, Joban Sehmi, Angela Silveira, Mai-Lis Hellénius, Ferdinand M. van’t Hooft, Gunnar Olsson, Stephan Rust, Gerd Assmann, Simona Barlera, Gianni Tognoni, Maria Grazia Franzosi, Pamela Linksted, Fiona R. Green, Asif Rasheed, Moazzam Zaidi, Nabi Shah, Maria Samuel, Nadeem Hayyat Mallick, Muhammad Azhar, Khan Shah Zaman, Abdus Samad, Mohammad Ishaq, Ali Raza Gardezi, Fazal-ur-Rehman Memon, Philippe M. Frossard, Tim D. Spector, Leena Peltonen, Markku S. Nieminen, Juha Sinisalo, Veikko Salomaa, Samuli Ripatti, Derrick Bennett, Karin Leander, Bruna Gigante, Ulf dé Fairé, Silvia De Pietri, F. Gori, Roberto Marchioli, Suthesh Sivapalaratnam, John J.P. Kastelein, Mieke D. Trip, Eirini Theodoraki, George Dedoussis, James C. Engert, Salim Yusuf, Sonia S. Anand

Bibliographic record

VenueENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcMaster UniversityMcGill University
FundersBritish Heart FoundationNational Institute for Health and Care Research
KeywordsCoronary artery diseaseDiseaseGenome-wide association studyAssociation (psychology)MedicineGeneticsDemographyBiologyInternal medicineSingle-nucleotide polymorphismGeneGenotypePsychologySociology

Abstract

fetched live from OpenAlex

Genome-wide association studies have identified 11 common variants convincingly associated with coronary artery disease (CAD)¹⁻⁷, a modest number considering the apparent heritability of CAD⁸. All of these variants have been discovered in European populations. We report a meta-analysis of four large genome-wide association studies of CAD, with ∼575,000 genotyped SNPs in a discovery dataset comprising 15,420 individuals with CAD (cases) (8,424 Europeans and 6,996 South Asians) and 15,062 controls. There was little evidence for ancestry-specific associations, supporting the use of combined analyses. Replication in an independent sample of 21,408 cases and 19,185 controls identified five loci newly associated with CAD (P < 5 × 10⁻⁸ in the combined discovery and replication analysis): LIPA on 10q23, PDGFD on 11q22, ADAMTS7-MORF4L1 on 15q25, a gene rich locus on 7q22 and KIAA1462 on 10p11. The CAD-associated SNP in the PDGFD locus showed tissue-specific cis expression quantitative trait locus effects. These findings implicate new pathways for CAD susceptibility.

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)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation 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 score0.006
Threshold uncertainty score0.962

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
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 head0.021
GPT teacher head0.242
Teacher spread0.221 · 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.

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

Citations10
Published2011
Admission routes1
Has abstractyes

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