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Interactions with early-life exposures modulate polygenic risk of wheeze and asthma in preschool-aged children

2020· preprint· en· W4242964611 on OpenAlexaff
Jihoon Choi, Amirtha Ambalavanan, Yang Zhang, Ruixue Dai, Elinor Simons, Hind Sbihi, Sonia S. Anand, Guillaume Par, Diana L. Lefebvre, Stuart E. Turvey, Piush J. Mandhane, Meghan B. Azad, Theo J. Moraes, Malcolm R. Sears, Padmaja Subbarao, Qing Duan

Bibliographic record

Venuenot available
Typepreprint
Languageen
FieldMedicine
TopicHuman Health and Disease
Canadian institutionsUniversity of TorontoUniversity of AlbertaUniversity of ManitobaChildren's Hospital Research Institute of ManitobaHospital for Sick ChildrenUniversity of British ColumbiaMcMaster UniversityQueen's University
Fundersnot available
KeywordsWheezeAsthmaMedicineGenome-wide association studyPediatricsBreastfeedingRespiratory soundsCohortSingle-nucleotide polymorphismGeneticsInternal medicineGenotypeBiologyGene

Abstract

fetched live from OpenAlex

Background: Asthma is a multifactorial disease with numerous associated genetic and environmental risk factors, however, gene-environment interactions are poorly understood in modulating disease risk. This study determines the polygenic effects of multiple genetic loci and interactions with environmental exposures during early infancy on risk of recurrent wheeze and asthma in pre-school aged children. Methods: We conducted genome-wide association studies (GWAS) and applied a thresholding method to calculate genetic risk scores (GRS) of recurrent wheeze and asthma in 2835 children of the CHILD Cohort Study. Recurrent wheeze was defined as two or more episodes in one year between ages 2-5 years and asthma was diagnosed at age 5 years. In addition, we tested for interaction effects between the GRS and environmental exposures on these respiratory outcomes. Results: GWAS identified associations with known asthma loci on chromosome 17q12 - 17q21 (p < 5e-8). GRS analysis determined that the weighted addition of alleles at four childhood-asthma loci correlated with more than 2-fold higher prevalence of recurrent wheeze (p =1.5e-08) and asthma (p = 9.4e-08) between high vs. low GRS groups. In addition, the GRS interacts with breastfeeding (p = 0.02) and traffic air pollution (NO2; p < 0.01) during the first year of life to modulate risk of recurrent wheeze and childhood-onset asthma. Conclusions: This study reports polygenic effects of multiple genetic loci, which interact with early-life exposures, to determine risk of respiratory outcomes during early childhood. Thus, asthma risk may be determined early in infancy when exposures may modulate genetic risk.

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)0.000
metaresearch head score (Gemma)0.000
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 score0.004
Threshold uncertainty score0.840

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
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 head0.017
GPT teacher head0.286
Teacher spread0.269 · 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

Citations0
Published2020
Admission routes1
Has abstractyes

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