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Record W2173807505 · doi:10.1038/ncomms9804

Meta-analysis identifies seven susceptibility loci involved in the atopic march

2015· review· en· W2173807505 on OpenAlexaff
Ingo Marenholz, Jorge Esparza-Gordillo, Franz Rüschendorf, Anja Bauerfeind, David P. Strachan, Ben D. Spycher, Hansjörg Baurecht, Patricia Margaritte‐Jeannin, Annika Sääf, Marjan Kerkhof, Markus Ege, Svetlana Baltic, Melanie C. Matheson, Jin Li, Sven Michel, Wei Ang, Wendy L. McArdle, Andreas Arnold, Georg Homuth, Florence Démenais, Emmanuelle Bouzigon, Cilla Söderhäll, Göran Pershagen, Johan C. de Jongste, Dirkje S. Postma, Charlotte Braun‐Fahrländer, Elisabeth Horak, Л. М. Огородова, В. П. Пузырев, E. Yu. Bragina, Thomas J. Hudson, Charles Morin, David L. Duffy, Guy B. Marks, Colin Robertson, Grant W. Montgomery, Bill Musk, Philip J. Thompson, Nicholas G. Martin, Patrick Sleiman, Elina Toskala, Elke Rodríguez, Regina Fölster‐Holst, André Franke, Wolfgang Lieb, Christian Gieger, Andrea Heinzmann, Ernst Rietschel, Thomas Keil, Sven Cichon, Markus M. Nöthen, Craig E. Pennell, Peter D. Sly, Carsten Oliver Schmidt, Anja Matanovic, Valentin Schneider-Lunitz, Matthias Heinig, Norbert Hübner, Patrick G. Holt, Susanne Lau, Michael Kabesch, Håkon Håkonarson, Manuel A. R. Ferreira, Catherine Laprise, Maxim B. Freidin, Jon Genuneit, Gerard H. Koppelman, Erik Melén, Marie‐Hélène Dizier, A. John Henderson, Young Ae Lee

Bibliographic record

VenueNature Communications · 2015
Typereview
Languageen
FieldMedicine
TopicAsthma and respiratory diseases
Canadian institutionsUniversité du Québec à ChicoutimiCentre de Santé et de Services Sociaux de ChicoutimiOntario Institute for Cancer Research
FundersMedical Research CouncilWellcome Trust
KeywordsAsthmaAtopic dermatitisChromosomeBiologyDiseaseGeneticsPhenotypeGenome-wide association studyComplex diseaseImmunologyGeneMedicineGenotypeSingle-nucleotide polymorphismPathology

Abstract

fetched live from OpenAlex

Eczema often precedes the development of asthma in a disease course called the 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10(-8)) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10(-9)). Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). We show that predominantly eczema loci increase the risk for the atopic march. Our findings suggest that eczema may play an important role in the development of asthma after eczema.

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)0.003
metaresearch head score (Gemma)0.005
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.004
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.005
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0040.006
Bibliometrics0.0020.003
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.000

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 head0.221
GPT teacher head0.440
Teacher spread0.219 · 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 designMeta-analysis
Domainnot available
GenreReview

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

Citations175
Published2015
Admission routes1
Has abstractyes

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