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Record W2116256947 · doi:10.1111/cea.12054

Genome‐wide association study of body mass index in 23 000 individuals with and without asthma

2012· article· en· W2116256947 on OpenAlexafffund
E. Melén, Raquel Granell, Manolis Kogevinas, David P. Strachan, Juan R. González, Matthias Wjst, Deborah Jarvis, Markus Ege, Charlotte Braun‐Fahrländer, Jon Genuneit, Elisabeth Horak, Emmanuelle Bouzigon, Florence Démenais, F. Kauffmann, Valérie Siroux, Sven Michel, Andrea von Berg, Andrea Heinzmann, Michael Kabesch, Nicole Probst‐Hensch, Ivan Curjuric, Medea Imboden, Thierry Rochat, A. John Henderson, Jonathan A C Sterne, Wendy L. McArdle, Jennie Hui, Anthony James, Arthur W. Musk, Lyle J. Palmer, Allan B. Becker, Anita L. Kozyrskyj, M. Chan‐Young, Jung-Eun Park, Andy Leung, Denise Daley, Maxim B. Freidin, И. А. Деев, Л. М. Огородова, В. П. Пузырев, J. C. Celedón, John M. Brehm, Michelle M. Cloutier, Glorisa Canino, Edna Acosta‐Pérez, M. E. Soto‐Quiros, Lydiana Ávila, Anna Bergström, Jessica Magnusson, Cilla Söderhäll, Inger Kull, Salome Scholtens, H. Marike Boezen, Gerard H. Koppelman, Alet H. Wijga, Ingo Marenholz, Jorge Esparza-Gordillo, Susanne Lau, Y.‐A. Lee, Marie Standl, Carla M. T. Tiesler, Claudia Flexeder, Joachim Heinrich, Rachel A. Myers, Carole Ober, Dan L. Nicolae, Martin Farrall, Ashish Kumar, Miriam F. Moffatt, William Cookson, Jessica Lasky‐Su

Bibliographic record

VenueClinical & Experimental Allergy · 2012
Typearticle
Languageen
FieldMedicine
TopicAsthma and respiratory diseases
Canadian institutionsUniversity of British ColumbiaUniversity of ManitobaUniversity of AlbertaLunenfeld-Tanenbaum Research InstituteOntario Institute for Cancer Research
FundersChildren's Hospital of PittsburghEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute for Health and Care ResearchCanadian Institutes of Health ResearchBrigham and Women's HospitalNational Heart, Lung, and Blood InstituteWellcome Trust
KeywordsGenome-wide association studyBody mass indexGenetic associationMedicineObesityAsthmaGenetic epidemiologyEpidemiologyGeneticsSingle-nucleotide polymorphismBiologyInternal medicineGenotypeGene

Abstract

fetched live from OpenAlex

Summary Background Both asthma and obesity are complex disorders that are influenced by environmental and genetic factors. Shared genetic factors between asthma and obesity have been proposed to partly explain epidemiological findings of co‐morbidity between these conditions. Objective To identify genetic variants that are associated with body mass index ( BMI ) in asthmatic children and adults, and to evaluate if there are differences between the genetics of BMI in asthmatics and healthy individuals. Methods In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. In total, 19 studies contributed with genome‐wide analysis study ( GWAS ) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. Results We report associations between several DENND 1B variants ( P = 2.2 × 10 −7 for rs4915551) on chromosome 1q31 and BMI from a meta‐analysis of GWAS data using 2691 asthmatic children (screening data). The top DENND 1B single nucleotide polymorphisms ( SNP s) were next evaluated in seven independent replication data sets comprising 2014 asthmatics, and rs4915551 was nominally replicated ( P < 0.05) in two of the seven studies and of borderline significance in one ( P = 0.059). However, strong evidence of effect heterogeneity was observed and overall, the association between rs4915551 and BMI was not significant in the total replication data set, P = 0.71. Using a random effects model, BMI was overall estimated to increase by 0.30 kg/m 2 ( P = 0.01 for combined screening and replication data sets, N = 4705) per additional G allele of this DENND 1B SNP . FTO was confirmed as an important gene for adult and childhood BMI regardless of asthma status. Conclusions and Clinical Relevance DENND 1B was recently identified as an asthma susceptibility gene in a GWAS on children, and here, we find evidence that DENND 1B variants may also be associated with BMI in asthmatic children. However, the association was overall not replicated in the independent data sets and the heterogeneous effect of DENND 1B points to complex associations with the studied diseases that deserve further study.

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)0.006
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 score0.009
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.006
Meta-epidemiology (narrow)0.0000.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0010.003
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.027
GPT teacher head0.358
Teacher spread0.331 · 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".

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Citations75
Published2012
Admission routes2
Has abstractyes

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