Evidence map›Paper›PMID 40468859›Full record

ArticleClinical genetics2025

Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.

Lucas D Richter, Douglas M Ruderfer, Josh F Peterson, Lisa A Bastarache

Abstract read
In one paragraph

Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

4 authors.

Lucas D RichterDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.ORCID 0000-0002-7053-6500
Douglas M RuderferDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Josh F PetersonDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Lisa A BastaracheDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Funding

Translating the Clinical Knowledge of Mendelian Diseases to Real-world EHR Data to Improve Identification of Undiagnosed PatientsR01HG012657 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lisa Bastarache, Douglas Ruderfer · 2022 to 2026
$4.3M
FIGOR: Fellowship In Genomics Outcomes ResearchR25HG012915 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Martha Dudek · 2023 to 2026
$1.1M
National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) R01HG012657National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) R25HG012915NHGRI NIH HHS R01 HG012657NHGRI NIH HHS R25 HG012915
6 · The paper itself

Abstract

This study assessed the effect of CFTR pathogenic variant status, detected during prenatal carrier screening, for the incidence and clinical recognition of cystic fibrosis-related phenotypes. Data were queried from the Vanderbilt University Medical Center clinical genetic database (CGdb), which includes clinically reported pathogenic variants and electronic health records (EHRs) from 2001 to 2023. Based on carrier screening results, we identified individuals heterozygous for a pathogenic CFTR variant and those who tested negative. Logistic regression tested associations between CFTR carrier status and 11 cystic fibrosis (CF)-related phenotypes. A phenome-wide association study (PheWAS) was performed to identify additional phenotypic associations, and manual chart review was conducted to evaluate recognition and clinical application of CFTR carrier status in patients diagnosed with pancreatitis. Among 12,082 women tested, CFTR carriers (n = 451) were at significantly higher risk of developing acute pancreatitis (p = 3.93 × 10

Indexed as

Cystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenetic Predisposition to DiseasePancreatitisAdultFemaleGenetic Carrier ScreeningHeterozygoteHumansMaleMutationPhenotypePregnancyPrenatal DiagnosisRisk FactorsCFTR protein, humanCystic Fibrosis Transmembrane Conductance RegulatorCFTR heterozygositycystic fibrosis‐related phenotypesgenetic risk factorspancreatitisphenome‐wide association study (PheWas)precision medicineprenatal carrier screening

Identifiers

PMID40468859
PMCPMC12580477

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.