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Record W2468405471 · doi:10.1164/rccm.201602-0250oc

Genetics and Genomics of Longitudinal Lung Function Patterns in Individuals with Asthma

2016· article· en· W2468405471 on OpenAlexaff
Michael J. McGeachie, Katherine P. Yates, Xiaobo Zhou, Feng Guo, Mark L. Van Natta, Robert A. Wise, Stanley J. Szefler, Sunita Sharma, Alvin T. Kho, Michael H. Cho, Damien C. Croteau‐Chonka, Peter J. Castaldi, Gaurav Jain, Amartya Sanyal, Ye Zhan, Bryan R. Lajoie, Job Dekker, J Stamatoyannopoulos, Ronina Covar, Robert S. Zeiger, N. Franklin Adkinson, Paul V. Williams, H. William Kelly, Hartmut Grasemann, Judith M. Vonk, Gerard H. Koppelman, Dirkje S. Postma, Benjamin A. Raby, Isaac B. Houston, Quan Lu, Anne L. Fuhlbrigge, Kelan G. Tantisira, Edwin K. Silverman, James Tonascia, Robert C. Strunk, Scott T. Weiss

Bibliographic record

VenueAmerican Journal of Respiratory and Critical Care Medicine · 2016
Typearticle
Languageen
FieldMedicine
TopicAsthma and respiratory diseases
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersNational Institute of Nursing ResearchNational Heart, Lung, and Blood InstituteNational Center for Advancing Translational SciencesNational Human Genome Research InstituteUniversity of California, San DiegoNational Institutes of HealthUniversitair Medisch Centrum GroningenFrancis Family FoundationMorehouse School of MedicineNational Institute of Diabetes and Digestive and Kidney DiseasesJohns Hopkins UniversityNational Jewish HealthNational Center for Research ResourcesGeorgia Clinical and Translational Science AllianceTemple University
KeywordsMedicineAsthmaSingle-nucleotide polymorphismOdds ratioGenome-wide association studyGeneticsInternal medicineBiologyGeneGenotype

Abstract

fetched live from OpenAlex

RATIONALE: Patterns of longitudinal lung function growth and decline in childhood asthma have been shown to be important in determining risk for future respiratory ailments including chronic airway obstruction and chronic obstructive pulmonary disease. OBJECTIVES: To determine the genetic underpinnings of lung function patterns in subjects with childhood asthma. METHODS: We performed a genome-wide association study of 581 non-Hispanic white individuals with asthma that were previously classified by patterns of lung function growth and decline (normal growth, normal growth with early decline, reduced growth, and reduced growth with early decline). The strongest association was also measured in two additional cohorts: a small asthma cohort and a large chronic obstructive pulmonary disease metaanalysis cohort. Interaction between the genomic region encompassing the most strongly associated single-nucleotide polymorphism and nearby genes was assessed by two chromosome conformation capture assays. MEASUREMENTS AND MAIN RESULTS: ; odds ratio, 2.8; 95% confidence interval, 2.0-4.0); replication analysis suggested this variant had opposite effects in normal growth with early decline and reduced growth with early decline pattern groups. Chromosome conformation capture experiments indicated a chromatin interaction between rs4445257 and the promoter of the distal CSMD3 gene. CONCLUSIONS: Early decline in lung function after normal growth is associated with a genetic polymorphism that may also protect against early decline in reduced growth groups. Clinical trial registered with www.clinicaltrials.gov (NCT00000575).

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)0.001
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 score0.004
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0010.000
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 head0.013
GPT teacher head0.290
Teacher spread0.277 · 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

Citations26
Published2016
Admission routes1
Has abstractyes

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