Evidence map›Paper›PMID 23154084›Full record

ArticleThe Journal of allergy and clinical immunology2013

Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes.

Raquel Granell, A John Henderson, Nicholas Timpson, Beate St Pourcain, John P Kemp, Susan M Ring, Karen Ho, Stephen B Montgomery, Emmanouil T Dermitzakis, David M Evans and 1 more

Abstract read
In one paragraph

Article in The Journal of allergy and clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 2 pooled it
4.9field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 74 citations in OpenAlex.

  1. Machine learning-derived asthma and allergy trajectories in children: a systematic review and meta-analysis.European respiratory review : an official journal of the European Respiratory Society · 2025
    Pooled it
  2. Pooled it
  3. Differential associations of allergic disease genetic variants with developmental profiles of eczema, wheeze and rhinitis.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2019
    Trial
  4. Article
  5. 17q21 Variants Disturb Mucosal Host Defense in Childhood Asthma.American journal of respiratory and critical care medicine · 2024
    Article
  6. Article
  7. Article
  8. Persistence of parental-reported asthma at early ages: A longitudinal twin study.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022
    Article
  9. Genetics of Asthma and Allergic Diseases.Handbook of experimental pharmacology · 2022
    Article
  10. Understanding How Asthma Starts: Longitudinal Patterns of Wheeze and the Chromosome 17q Locus.American journal of respiratory and critical care medicine · 2021
    Article
  11. Chromosome 17q12-21 Variants Are Associated with Multiple Wheezing Phenotypes in Childhood.American journal of respiratory and critical care medicine · 2021
    Article
  12. Review
  13. Review
  14. A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle.The Journal of allergy and clinical immunology · 2018
    Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 3 countries.

Raquel GranellSchool of Social and Community Medicine, University of Bristol, Bristol, United Kingdom. raquel.granell@bristol.ac.uk
A John Henderson
Nicholas Timpson
Beate St Pourcain
John P Kemp
Susan M Ring
Karen Ho
Stephen B Montgomery
Emmanouil T Dermitzakis
David M Evans
Jonathan A C Sterne
University of Bristol · GBUniversity of Geneva · CH

Funding

Medical Research Council G0401540Medical Research Council G0600705Medical Research Council G9815508Wellcome Trust 090539Wellcome Trust 092731Wellcome Trust WT083431MA
6 · The paper itself

Abstract

backgroundGenome-wide association studies have identified associations of genetic variants at 17q21 near ORMDL3 with childhood asthma.

objectivesWe sought to determine whether associations in this region are specific to particular asthma phenotypes and specific to ORMDL3.

methodsWe examined associations between 244 independent single nucleotide polymorphisms (SNPs) plus 13 previously identified asthma-related SNPs in the region between 34 and 36 Mb on chromosome 17 and early wheezing phenotypes, doctor-diagnosed asthma and atopy at 7½ years, and bronchial hyperresponsiveness and lung function at 8½ years in 7045 children from the Avon Longitudinal Study of Parents and Children birth cohort study. With this, cis expression quantitative trait loci signals for the same SNPs were assessed in 875 samples across genes in the same region.

resultsThe strongest evidence for phenotypic association was seen for persistent wheezing (rs8076131 near ORMDL3: relative risk ratio [RRR], 1.60 [95% CI, 1.40-1.84], P = 1.4 × 10(-11); rs2305480 near GSDML: RRR, 1.60 [95% CI, 1.39-1.83], P = 1.5 × 10(-11); and rs9303277 near IKZF3: RRR, 1.57 [95% CI, 1.37-1.79], P = 4.4 × 10(-11)). Similar but less precisely estimated effects were seen for intermediate-onset wheeze, but there was little evidence of associations with other wheezing phenotypes. There was some evidence of associations with bronchial hyperresponsiveness. SNPs across the whole region show strong evidence of association with differential levels of expression at GSDML, IKZF3, and MED24, as well as ORMDL3.

conclusionsAssociations of SNPs in the 17q21 locus are specific to asthma and specific wheezing phenotypes and are not explained by associations with intermediate phenotypes, such as atopy or lung function.

Indexed as

AsthmaBronchial HyperreactivityChildChromosomes, Human, Pair 17FemaleGenome-Wide Association StudyHumansMaleMembrane ProteinsPhenotypePolymorphism, Single NucleotideRespiratory SoundsMembrane ProteinsORMDL3 protein, human

Identifiers

PMID23154084
PMCPMC4427593
OpenAlexW2167345828

What OpenQuestion holds

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LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.