Evidence map›Paper›PMID 23932459›Full record

ArticleThe Journal of allergy and clinical immunology2014

Genome-wide association study of lung function phenotypes in a founder population.

Tsung-Chieh Yao, Gaixin Du, Lide Han, Ying Sun, Donglei Hu, James J Yang, Rasika Mathias, Lindsey A Roth, Nicholas Rafaels, Emma E Thompson and 15 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of allergy and clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 3 pooled it
5.3field-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

48 citing papers in PubMed, 3 syntheses or guidelines pooled it, 66 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Susceptibility to Childhood Pneumonia: A Genome-Wide Analysis.American journal of respiratory cell and molecular biology · 2017
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  12. Notch transcriptional target tmtc1 maintains vascular homeostasis.Cellular and molecular life sciences : CMLS · 2024
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  13. Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023
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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

25 authors at 6 institutions in 1 country.

Tsung-Chieh YaoDepartment of Human Genetics, University of Chicago, Chicago, Ill; Division of Allergy, Asthma, and Rheumatology, Department of Pediatrics, Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, Taiwan. Electronic address: yao@adm.cgmh.org.tw.
Gaixin DuDepartment of Human Genetics, University of Chicago, Chicago, Ill.
Lide HanDepartment of Human Genetics, University of Chicago, Chicago, Ill.
Ying SunDepartment of Human Genetics, University of Chicago, Chicago, Ill.
Donglei HuDepartment of Medicine, University of California, San Francisco, Calif.
James J YangDepartment of Public Health Sciences, Henry Ford Health System, Detroit, Mich.
Rasika MathiasDivision of Allergy and Clinical Immunology, Department of Medicine, The Johns Hopkins University, Baltimore, Md.
Lindsey A RothDepartment of Medicine, University of California, San Francisco, Calif.
Nicholas RafaelsDivision of Allergy and Clinical Immunology, Department of Medicine, The Johns Hopkins University, Baltimore, Md.
Emma E ThompsonDepartment of Human Genetics, University of Chicago, Chicago, Ill.
Dagan A LoiselDepartment of Human Genetics, University of Chicago, Chicago, Ill.
Rebecca AndersonDepartment of Human Genetics, University of Chicago, Chicago, Ill.
Celeste EngDepartment of Medicine, University of California, San Francisco, Calif.
Maitane Arruabarrena OrbegozoDepartment of Human Genetics, University of Chicago, Chicago, Ill.
Melody YoungDepartment of Pediatrics, University of Chicago, Chicago, Ill.
James M KlocksiebenDepartment of Medicine, University of Chicago, Chicago, Ill.
Elizabeth AndersonDepartment of Pediatrics, University of Wisconsin, Madison, Wis.
Kathleen ShanovichDepartment of Pediatrics, University of Wisconsin, Madison, Wis.
Lucille A LesterDepartment of Pediatrics, University of Chicago, Chicago, Ill.
L Keoki WilliamsCenter for Health Services Research and Department of Internal Medicine, Henry Ford Health System, Detroit, Mich.
Kathleen C BarnesDivision of Allergy and Clinical Immunology, Department of Medicine, The Johns Hopkins University, Baltimore, Md.
Esteban G BurchardDepartment of Medicine, University of California, San Francisco, Calif; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, Calif.
Dan L NicolaeDepartment of Human Genetics, University of Chicago, Chicago, Ill; Department of Pediatrics, University of Chicago, Chicago, Ill; Department of Statistics, University of Chicago, Chicago, Ill.
Mark AbneyDepartment of Human Genetics, University of Chicago, Chicago, Ill.
Carole OberDepartment of Human Genetics, University of Chicago, Chicago, Ill. Electronic address: c-ober@genetics.uchicago.edu.
University of Chicago · USUniversity of California, San Francisco · USJohns Hopkins Medicine · USUniversity of Wisconsin–Madison · USHenry Ford Health System · USJohns Hopkins University · US

Funding

Sex-Specific Genetic Architecture of Asthma-Associated Quantitative TraitsR01HL085197 · NHLBI · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 2007 to 2015
$7.6M
Methods for Complex Trait Mapping in Large PedigreesR01HG002899 · NHGRI · UNIVERSITY OF CHICAGO · PI ABNEY, MARK A · 2004 to 2015
$3.5M
NHGRI NIH HHS R01 HG002899NHLBI NIH HHS R01 HL085197
6 · The paper itself

Abstract

backgroundLung function is a long-term predictor of mortality and morbidity.

objectiveWe sought to identify single nucleotide polymorphisms (SNPs) associated with lung function.

methodsWe performed a genome-wide association study (GWAS) of FEV1, forced vital capacity (FVC), and FEV1/FVC in 1144 Hutterites aged 6 to 89 years, who are members of a founder population of European descent. We performed least absolute shrinkage and selection operation regression to select the minimum set of SNPs that best predict FEV1/FVC in the Hutterites and used the GRAIL algorithm to mine the Gene Ontology database for evidence of functional connections between genes near the predictive SNPs.

resultsOur GWAS identified significant associations between FEV1/FVC and SNPs at the THSD4-UACA-TLE3 locus on chromosome 15q23 (P = 5.7 × 10(-8) to 3.4 × 10(-9)). Nine SNPs at or near 4 additional loci had P < 10(-5) with FEV1/FVC. Only 2 SNPs were found with P < 10(-5) for FEV1 or FVC. We found nominal levels of significance with SNPs at 9 of the 27 previously reported loci associated with lung function measures. Among a predictive set of 80 SNPs, 6 loci were identified that had a significant degree of functional connectivity (GRAIL P < .05), including 3 clusters of β-defensin genes, 2 chemokine genes (CCL18 and CXCL12), and TNFRSF13B.

conclusionThis study identifies genome-wide significant associations and replicates results of previous GWASs. Multimarker modeling implicated for the first time common variation in genes involved in antimicrobial immunity in airway mucosa that influences lung function.

Indexed as

AdolescentAdultAgedbeta-DefensinsChemokine CXCL12Chemokines, CCChildFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansImmunity, MucosalLungMaleMiddle AgedPolymorphism, Single Nucleotidebeta-DefensinsCCL18 protein, humanChemokine CXCL12Chemokines, CCTNFRSF13B protein, humanTransmembrane Activator and CAML Interactor ProteinChronic obstructive pulmonary diseaseCOPDFEV(1)FEV(1)/FVCForced vital capacityFVCGenome-wide association studyGRAILGWASLASSOLASSO regressionLeast absolute shrinkage and selection operationSingle nucleotide polymorphismSNP

Identifiers

PMID23932459
PMCPMC4270121
OpenAlexW2147628946

What OpenQuestion holds

Textmetadata
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.