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Record W2023104050 · doi:10.1534/g3.111.001164

Genome-Wide Association Analysis of Ischemic Stroke in Young Adults

2011· article· en· W2023104050 on OpenAlexaff
Yu-Ching Cheng, Jeffrey R. O’Connell, John W. Cole, O. Colin Stine, Nicole Dueker, Patrick F. McArdle, Mary J. Sparks, Jess Shen, Cathy C. Laurie, Sarah C. Nelson, Kimberly F. Doheny, Hua Ling, Elizabeth Pugh, Thomas G. Brott, Robert D. Brown, James F. Meschia, Michael A. Nalls, Stephen S. Rich, Bradford B. Worrall, Christopher D. Anderson, Alessandro Biffi, Lynelle Cortellini, Karen L. Furie, Natalia S. Rost, Jonathan Rosand, Teri A. Manolio, Steven J. Kittner, Braxton D. Mitchell

Bibliographic record

VenueG3 Genes Genomes Genetics · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsInstitute of Aging
FundersJohns Hopkins UniversityNational Institute of Diabetes and Digestive and Kidney DiseasesNational Human Genome Research InstituteNational Institute on AgingCenters for Disease Control and PreventionU.S. Department of Veterans AffairsNIH Clinical CenterNational Institutes of HealthOffice of Research on Women's HealthNational Institute of Neurological Disorders and StrokeAmerican Heart AssociationOffice of Research and Development
KeywordsGenome-wide association studyIschemic strokeStroke (engine)Association (psychology)MedicineInternal medicineBiologyGeneticsPsychologyIschemiaGeneGenotypeSingle-nucleotide polymorphismEngineering

Abstract

fetched live from OpenAlex

Ischemic stroke (IS) is among the leading causes of death in Western countries. There is a significant genetic component to IS susceptibility, especially among young adults. To date, research to identify genetic loci predisposing to stroke has met only with limited success. We performed a genome-wide association (GWA) analysis of early-onset IS to identify potential stroke susceptibility loci. The GWA analysis was conducted by genotyping 1 million SNPs in a biracial population of 889 IS cases and 927 controls, ages 15-49 years. Genotypes were imputed using the HapMap3 reference panel to provide 1.4 million SNPs for analysis. Logistic regression models adjusting for age, recruitment stages, and population structure were used to determine the association of IS with individual SNPs. Although no single SNP reached genome-wide significance (P < 5 × 10(-8)), we identified two SNPs in chromosome 2q23.3, rs2304556 (in FMNL2; P = 1.2 × 10(-7)) and rs1986743 (in ARL6IP6; P = 2.7 × 10(-7)), strongly associated with early-onset stroke. These data suggest that a novel locus on human chromosome 2q23.3 may be associated with IS susceptibility among young adults.

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)0.000
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 score0.028
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
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 head0.235
Teacher spread0.222 · 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

Citations37
Published2011
Admission routes1
Has abstractyes

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