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Record W2300682604 · doi:10.1164/rccm.201512-2431oc

Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans

2016· article· en· W2300682604 on OpenAlexaff
Brian E. Cade, Han Chen, Adrienne M. Stilp, Kevin J. Gleason, Tamar Sofer, Sonia Ancoli‐Israel, Raanan Arens, Graeme I. Bell, Jennifer E. Below, Andrew Bjonnes, Sung Chun, Matthew P. Conomos, Daniel S. Evans, W. Craig Johnson, Alexis C. Wood, Jacqueline M. Lane, Emma K. Larkin, José S. Loredo, Wendy S. Post, Alberto R. Ramos, Kenneth Rice, Jerome I. Rotter, Neomi Shah, Katie L. Stone, Kent D. Taylor, Timothy A. Thornton, Gregory J. Tranah, Chaolong Wang, Phyllis C. Zee, Craig L. Hanis, Shamil Sunyaev, Sanjay R. Patel, Cathy C. Laurie, Xiaofeng Zhu, Richa Saxena, Xihong Lin, Susan Redline

Bibliographic record

VenueAmerican Journal of Respiratory and Critical Care Medicine · 2016
Typearticle
Languageen
FieldMedicine
TopicObstructive Sleep Apnea Research
Canadian institutionsCanadian Sleep & Circadian Network
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute on Minority Health and Health DisparitiesNational Center for Advancing Translational SciencesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Institute of Dental and Craniofacial ResearchGillings School of Public HealthNational Institute of General Medical SciencesAlbert Einstein College of Medicine, Yeshiva UniversityKovler Family FoundationBroad InstituteNational Center for Research ResourcesNational Institute of Allergy and Infectious DiseasesUniversity of Texas Health Science Center at HoustonUniversity of WashingtonJohns Hopkins UniversityUniversity of North CarolinaBaylor College of MedicineNational Institutes of HealthSan Diego State UniversityNational Heart, Lung, and Blood InstituteUniversity of MiamiNorthwestern UniversityMassachusetts Institute of TechnologyNational Institute on AgingUniversity of MinnesotaOffice of Dietary SupplementsNational Cancer InstituteBrigham and Women's HospitalNational Institute on Deafness and Other Communication Disorders
KeywordsMedicineObstructive sleep apneaHypoxemiaSleep apneaPopulationGenome-wide association studyHypopneaApneaPolysomnographyApnea–hypopnea indexInternal medicineGeneticsSingle-nucleotide polymorphismGenotypeBiology

Abstract

fetched live from OpenAlex

RATIONALE: Obstructive sleep apnea is a common disorder associated with increased risk for cardiovascular disease, diabetes, and premature mortality. Although there is strong clinical and epidemiologic evidence supporting the importance of genetic factors in influencing obstructive sleep apnea, its genetic basis is still largely unknown. Prior genetic studies focused on traits defined using the apnea-hypopnea index, which contains limited information on potentially important genetically determined physiologic factors, such as propensity for hypoxemia and respiratory arousability. OBJECTIVES: To define novel obstructive sleep apnea genetic risk loci for obstructive sleep apnea, we conducted genome-wide association studies of quantitative traits in Hispanic/Latino Americans from three cohorts. METHODS: Genome-wide data from as many as 12,558 participants in the Hispanic Community Health Study/Study of Latinos, Multi-Ethnic Study of Atherosclerosis, and Starr County Health Studies population-based cohorts were metaanalyzed for association with the apnea-hypopnea index, average oxygen saturation during sleep, and average respiratory event duration. MEASUREMENTS AND MAIN RESULTS: ). Secondary sex-stratified analyses also identified one significant and several suggestive associations. Multiple loci overlapped genes with biologic plausibility. CONCLUSIONS: These are the first genome-level significant findings reported for obstructive sleep apnea-related physiologic traits in any population. These findings identify novel associations in inflammatory, hypoxia signaling, and sleep pathways.

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)0.002
metaresearch head score (Gemma)0.002
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 score0.006
Threshold uncertainty score0.012

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.002
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.319
Teacher spread0.298 · 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

Citations136
Published2016
Admission routes1
Has abstractyes

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