Evidence map›Paper›PMID 27408752›Full record

ArticleHuman genome variation2016

Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.

Hong Dang, Paul J Gallins, Rhonda G Pace, Xue-Liang Guo, Jaclyn R Stonebraker, Harriet Corvol, Garry R Cutting, Mitchell L Drumm, Lisa J Strug, Michael R Knowles and 1 more

Erratum issued Registry-linked trialOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00037765 (Gene Modifiers of Cystic Fibrosis Lung Disease), which is not on this map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.0field-weighted citation impact, top 13% 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.

NCT00037765 active not recruitingnot on this map

Gene Modifiers of Cystic Fibrosis Lung Disease

TypeobservationalSponsorUniversity of North Carolina, Chapel HillRan2001 to 2027Enrolled600ConditionsCystic Fibrosis, Lung Diseases
3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Coordinate regulation of ELF5 and EHF at the chr11p13 CF modifier region.Journal of cellular and molecular medicine · 2019
    Article
  3. Observational
  4. Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.American journal of respiratory and critical care medicine · 2018
    Article
  5. Article
  6. Review
  7. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 6 institutions in 3 countries.

Hong DangMarsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.
Paul J GallinsBioinformatics Research Center, North Carolina State University , Raleigh, NC, USA.
Rhonda G PaceMarsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.
Xue-Liang GuoMarsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.
Jaclyn R StonebrakerMarsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.
Harriet CorvolAssistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Trousseau, Pediatric Pulmonary Department, Institut National de la Santé et la Recherche Médicale (INSERM) U938, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Paris 06, Paris, France.
Garry R CuttingMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Mitchell L DrummDepartment of Pediatrics, School of Medicine, Case Western Reserve University , Cleveland, OH, USA.
Lisa J StrugProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Michael R KnowlesMarsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.
Wanda K O'NealMarsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.
University of North Carolina at Chapel Hill · USAssistance Publique – Hôpitaux de Paris · FRCase Western Reserve University · USJohns Hopkins Medicine · USNorth Carolina State University · USSickKids Foundation · CA

Funding

Vector CoreP30DK065988 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Richard Charles Boucher, Martina Gentzsch · 2004 to 2026
$26.5M
Gene Modifiers in CF Lung DiseaseR01HL068890 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KNOWLES, MICHAEL R · 2001 to 2014
$9.5M
Mining open chromatin to define molecular mechanisms of CF modifier genesR01HL117843 · NHLBI · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI HARRIS, ANN, KNOWLES, MICHAEL R · 2013 to 2017
$2.9M
NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS R01 HL068890NHLBI NIH HHS R01 HL117843NIDDK NIH HHS P30 DK065988
6 · The paper itself

Abstract

Published genome-wide association studies (GWASs) identified an intergenic region with regulatory features on chr11p13 associated with cystic fibrosis (CF) lung disease severity. Targeted resequencing in n=377, followed by imputation to n=6,365 CF subjects, was used to identify unrecognized genetic variants (including indels and microsatellite repeats) associated with phenotype. Highly significant associations were in strong linkage disequilibrium and were seen only in Phe508del homozygous CF subjects, indicating a CFTR genotype-specific mechanism.

Identifiers

PMID27408752
PMCPMC4935763
OpenAlexW2465493682

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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.