ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- 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 · 2026Review
- Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.Genome research · 2026Article
- The endocrine complications of cystic fibrosis.Nature reviews. Endocrinology · 2026Review
- Relationship between impaired glucose metabolism and bone mineral density in patients with cystic fibrosis.European journal of pediatrics · 2026Article
- Article
- Metabolomics Panel Associated with Cystic Fibrosis-Related Diabetes toward Biomarker Discovery.ACS omega · 2024Article
- Cystic Fibrosis-Related Diabetes Workshop: Research Priorities Spanning Disease Pathophysiology, Diagnosis, and Outcomes.Diabetes care · 2023Review
- Cystic Fibrosis-Related Diabetes Workshop: Research Priorities Spanning Disease Pathophysiology, Diagnosis, and Outcomes.Diabetes · 2023Review
- High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.HGG advances · 2023Article
- A provider survey of cystic fibrosis related diabetes screening and management practices at North American CF centers.Frontiers in endocrinology · 2023Article
- Endocrine Complications of Cystic Fibrosis.Clinics in chest medicine · 2022Review
- Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.International journal of molecular sciences · 2022Review
- Precision medicine via the integration of phenotype-genotype information in neonatal genome project.Fundamental research · 2022Review
- Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.American journal of human genetics · 2022Article
- Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease.NPJ genomic medicine · 2022Article
- Cystic Fibrosis-Related Diabetes in Poland.International journal of environmental research and public health · 2022Article
- The role of genetic modifiers, inflammation and CFTR in the pathogenesis of Cystic fibrosis related diabetes.Journal of clinical & translational endocrinology · 2022Article
- The Potential Causes of Cystic Fibrosis-Related Diabetes.Frontiers in endocrinology · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
60 authors at 20 institutions in 3 countries.
Funding
Abstract
purposeCystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis-related diabetes (CFRD). Untreated CFRD causes increased CF-related mortality whereas early detection can improve outcomes.
methodsUsing genetic and easily accessible clinical measures available at birth, we constructed a CFRD prediction model using the Canadian CF Gene Modifier Study (CGS; n = 1,958) and validated it in the French CF Gene Modifier Study (FGMS; n = 1,003). We investigated genetic variants shown to associate with CF disease severity across multiple organs in genome-wide association studies.
resultsThe strongest predictors included sex, CFTR severity score, and several genetic variants including one annotated to PRSS1, which encodes cationic trypsinogen. The final model defined in the CGS shows excellent agreement when validated on the FGMS, and the risk classifier shows slightly better performance at predicting CFRD risk later in life in both studies.
conclusionWe demonstrated clinical utility by comparing CFRD prevalence rates between the top 10% of individuals with the highest risk and the bottom 10% with the lowest risk. A web-based application was developed to provide practitioners with patient-specific CFRD risk to guide CFRD monitoring and treatment.
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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.