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Record W2140362433 · doi:10.1371/journal.pone.0036473

Multi-Ethnic Analysis of Lipid-Associated Loci: The NHLBI CARe Project

2012· article· en· W2140362433 on OpenAlexaff
Kiran Musunuru, Simon P.R. Romaine, Guillaume Lettre, James G. Wilson, Kelly A. Volcik, Michael Y. Tsai, Herman A. Taylor, Pamela J. Schreiner, Jerome I. Rotter, Stephen S. Rich, Susan Redline, Bruce M. Psaty, George Papanicolaou, José M. Ordovás, Kiang Liu, Ronald M. Krauss, Nicole L. Glazer, Stacey Gabriel, Myriam Fornage, L. Adrienne Cupples, Sarah G. Buxbaum, Eric Boerwinkle, Christie M. Ballantyne, Sekar Kathiresan, Daniel J. Rader

Bibliographic record

VenuePLoS ONE · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité de MontréalMontreal Heart Institute
FundersNational Center for Advancing Translational SciencesNational Institute on Minority Health and Health DisparitiesNational Center for Research ResourcesNational Institute on AgingWake Forest UniversityKaiser Foundation Research InstituteCedars-Sinai Medical CenterUniversity of PittsburghNational Institute of Diabetes and Digestive and Kidney DiseasesJackson State UniversityJohns Hopkins UniversityNorthwestern UniversityNational Heart, Lung, and Blood InstituteUniversity of California, DavisUniversity of Minnesota
KeywordsGenome-wide association studyGeneticsGenetic architectureGenetic associationBiologyGenetic epidemiologyLocus (genetics)HeritabilityPopulationEthnic groupGeneQuantitative trait locusGenotypeMedicineSingle-nucleotide polymorphismEnvironmental health

Abstract

fetched live from OpenAlex

BACKGROUND: Whereas it is well established that plasma lipid levels have substantial heritability within populations, it remains unclear how many of the genetic determinants reported in previous studies (largely performed in European American cohorts) are relevant in different ethnicities. METHODOLOGY/PRINCIPAL FINDINGS: We tested a set of ∼50,000 polymorphisms from ∼2,000 candidate genes and genetic loci from genome-wide association studies (GWAS) for association with low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) in 25,000 European Americans and 9,000 African Americans in the National Heart, Lung, and Blood Institute (NHLBI) Candidate Gene Association Resource (CARe). We replicated associations for a number of genes in one or both ethnicities and identified a novel lipid-associated variant in a locus harboring ICAM1. We compared the architecture of genetic loci associated with lipids in both African Americans and European Americans and found that the same genes were relevant across ethnic groups but the specific associated variants at each gene often differed. CONCLUSIONS/SIGNIFICANCE: We identify or provide further evidence for a number of genetic determinants of plasma lipid levels through population association studies. In many loci the determinants appear to differ substantially between African Americans and European Americans.

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)0.005
metaresearch head score (Gemma)0.008
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 score0.051
Threshold uncertainty score0.102

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.008
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.003
Science and technology studies0.0020.000
Scholarly communication0.0010.000
Open science0.0010.002
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.001

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 head0.074
GPT teacher head0.305
Teacher spread0.230 · 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

Citations49
Published2012
Admission routes1
Has abstractyes

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Same venuePLoS ONESame topicGenetic Associations and EpidemiologyFrench-language works237,207