Evidence map›Paper›PMID 36206743›Full record

ArticleAmerican journal of human genetics2022

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.

Melis A Aksit, Hua Ling, Rhonda G Pace, Karen S Raraigh, Frankline Onchiri, Anna V Faino, Kymberleigh Pagel, Elizabeth Pugh, Adrienne M Stilp, Quan Sun and 9 more

2 registry-linked trialsOpen access · greenAbstract read
In one paragraph

Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.6field-weighted citation impact, top 9% 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
NCT01113216 enrolling by invitationnot on this map

Genetic Modifiers of Cystic Fibrosis Related Diabetes

TypeobservationalSponsorJohns Hopkins UniversityRan2008 to 2030Enrolled1,500ConditionsCystic Fibrosis Related Diabetes
3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 17 citations in OpenAlex.

  1. Impact of Genetics on Endocrine Manifestations of Cystic Fibrosis.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026
    Review
  2. The endocrine complications of cystic fibrosis.Nature reviews. Endocrinology · 2026
    Review
  3. Review
  4. Article
  5. Annals of the American Thoracic Society · 2025
    Article
  6. Observational
  7. Review
  8. Article
  9. Article
  10. Review
  11. Review
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

19 authors at 6 institutions in 1 country.

Melis A AksitMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Hua LingDepartment of Genetic Medicine, Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Rhonda G PaceMarsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Karen S RaraighMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Frankline OnchiriChildren's Core for Biostatistics, Epidemiology and Analytics in Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Anna V FainoChildren's Core for Biostatistics, Epidemiology and Analytics in Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Kymberleigh PagelThe Institute for Computational Medicine, The Johns Hopkins University, Baltimore, MD 21218, USA.
Elizabeth PughDepartment of Genetic Medicine, Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Adrienne M StilpDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Quan SunDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Elizabeth E BlueDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Fred A WrightDepartment of Statistics, North Carolina State University, Raleigh, NC 27797, USA; Bioinformatics Research Center, North Carolina State University, Raleigh, NC 27797, USA; Department of Biological Sciences, North Carolina State University, Raleigh, NC 27797, USA.
Yi-Hui ZhouBioinformatics Research Center, North Carolina State University, Raleigh, NC 27797, USA.
Michael J BamshadBrotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Center for Clinical and Translational Research, Seattle Children's Hospital, Seattle, WA 98105, USA.
Ronald L GibsonCenter for Clinical and Translational Research, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Pediatrics, Division of Pulmonary & Sleep Medicine, University of Washington School of Medicine/Seattle Children's Hospital, Seattle, WA, USA.
Michael R KnowlesMarsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Garry R CuttingMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Scott M BlackmanMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address: sblackman@jhmi.edu.
CF Genome Project
Johns Hopkins University · USUniversity of North Carolina at Chapel Hill · USNorth Carolina State University · USSeattle Children's Hospital · USUniversity of Washington Medical Center · USUniversity of Washington · US

Funding

NHLBI Data Stage Coordinating CenterOT3HL147154 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Ashok Kumar Krishnamurthy · 2018 to 2026
$98.9M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142481 · NHLBI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI GROSSMAN, ROBERT L., PATEN, BENEDICT · 2017 to 2020
$24.9M
Translational Research Center to Expedite Novel Therapies in Cystic FibrosisP30DK089507 · NIDDK · SEATTLE CHILDREN'S HOSPITAL · PI Christopher Hooper Goss · 2010 to 2026
$21.4M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142478 · NHLBI · SEVEN BRIDGES GENOMICS, INC. · PI DAVIS-DUSENBERY, BRANDI NICOLE · 2017 to 2022
$12.6M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142480 · NHLBI · HARVARD MEDICAL SCHOOL · PI AVILLACH, PAUL · 2017 to 2022
$8.8M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142479 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KRISHNAMURTHY, ASHOK KUMAR · 2017 to 2020
$6.1M
NHLBI NIH HHS OT3 HL142478NHLBI NIH HHS OT3 HL142479NHLBI NIH HHS OT3 HL142480NHLBI NIH HHS OT3 HL142481NHLBI NIH HHS OT3 HL147154NIDDK NIH HHS P30 DK089507
6 · The paper itself

Abstract

Individuals with cystic fibrosis (CF) develop complications of the gastrointestinal tract influenced by genetic variants outside of CFTR. Cystic fibrosis-related diabetes (CFRD) is a distinct form of diabetes with a variable age of onset that occurs frequently in individuals with CF, while meconium ileus (MI) is a severe neonatal intestinal obstruction affecting ∼20% of newborns with CF. CFRD and MI are slightly correlated traits with previous evidence of overlap in their genetic architectures. To better understand the genetic commonality between CFRD and MI, we used whole-genome-sequencing data from the CF Genome Project to perform genome-wide association. These analyses revealed variants at 11 loci (6 not previously identified) that associated with MI and at 12 loci (5 not previously identified) that associated with CFRD. Of these, variants at SLC26A9, CEBPB, and PRSS1 associated with both traits; variants at SLC26A9 and CEBPB increased risk for both traits, while variants at PRSS1, the higher-risk alleles for CFRD, conferred lower risk for MI. Furthermore, common and rare variants within the SLC26A9 locus associated with MI only or CFRD only. As expected, different loci modify risk of CFRD and MI; however, a subset exhibit pleiotropic effects indicating etiologic and mechanistic overlap between these two otherwise distinct complications of CF.

Indexed as

Cystic FibrosisDiabetes MellitusInfant, Newborn, DiseasesIntestinal ObstructionCystic Fibrosis Transmembrane Conductance RegulatorGenome-Wide Association StudyHumansInfant, NewbornCystic Fibrosis Transmembrane Conductance RegulatorCFRDcystic fibrosiscystic fibrosis-related diabetesdiabetesgenetic modifierintestinal obstructionmeconium ileuspleiotropy

Identifiers

PMID36206743
PMCPMC9606479
OpenAlexW4302306818

What OpenQuestion holds

Textmetadata
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.