ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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.
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.
Who cites it
22 citing papers in PubMed, 56 citations in OpenAlex.
- Considerations for early life genetic therapies in cystic fibrosis.American journal of physiology. Lung cellular and molecular physiology · 2026Review
- Distinct regulatory elements of SLC6A14 expression contribute to modification of cystic fibrosis phenotypes.Human genetics · 2026Article
- Evolution and Prognostic Variables of Cystic Fibrosis in Children and Young Adults: A Narrative Review.Diagnostics (Basel, Switzerland) · 2025Review
- Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.Journal of clinical medicine · 2025Article
- The significant impact of meconium ileus on clinical outcomes among Brazilian individuals with cystic fibrosis-a retrospective analysis of a patient registry.Lancet regional health. Americas · 2025Article
- Complicated meconium ileus in a male neonate with cystic fibrosis: Case report.Radiology case reports · 2025Article
- Pathogenicity and virulence ofVirulence · 2023Review
- High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.HGG advances · 2023Article
- The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.International journal of pediatrics & adolescent medicine · 2022Article
- Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.Journal of clinical medicine · 2021Review
- The X factor: A robust and powerful approach to X-chromosome-inclusive whole-genome association studies.Genetic epidemiology · 2021Article
- Early Diagnosis and Intervention in Cystic Fibrosis: Imagining the Unimaginable.Frontiers in pediatrics · 2020Review
- Patient-reported outcomes in patients with cystic fibrosis with a G551D mutation on ivacaftor treatment: results from a cross-sectional study.BMC pulmonary medicine · 2019Observational
- Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.PLoS genetics · 2019Article
- The evidential statistical paradigm in genetics.Genetic epidemiology · 2018Review
- Guanylate cyclase 2C agonism corrects CFTR mutants.JCI insight · 2017Article
- Cystic Fibrosis.Deutsches Arzteblatt international · 2017Review
- Body composition and lung function in children with cystic fibrosis and meconium ileus.European journal of pediatrics · 2017Article
- Cystic fibrosis: a clinical view.Cellular and molecular life sciences : CMLS · 2017Review
- Beyond pancreatic insufficiency and liver disease in cystic fibrosis.European journal of pediatrics · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleMeconium ileus (MI) is a perinatal complication in cystic fibrosis (CF), which is only minimally influenced by environmental factors. We derived and examined MI prevalence (MIP) scores to assess CFTR phenotype-phenotype correlation for severe mutations.
methodMIP scores were established using a Canadian CF population (n = 2,492) as estimates of the proportion of patients with MI among all patients carrying the same CFTR mutation, focusing on patients with p.F508del as the second allele. Comparisons were made to the registries from the US CF Foundation (n = 43,432), Italy (Veneto/Trentino/Alto Adige regions) (n = 1,788), and Germany (n = 3,596).
resultsThe prevalence of MI varied among the different registries (13-21%). MI was predominantly prevalent in patients with pancreatic insufficiency carrying "severe" CFTR mutations. In this severe spectrum MIP scores further distinguished between mutation types, for example, G542X (0.31) with a high, F508del (0.22) with a moderate, and G551D (0.08) with a low MIP score. Higher MIP scores were associated with more severe clinical phenotypes, such as a lower forced expiratory volume in 1 second (P = 0.01) and body mass index z score (P = 0.04).
conclusionsMIP scores can be used to rank CFTR mutations according to their clinical severity and provide a means to expand delineation of CF phenotypes.Genet Med 18 4, 333-340.
Indexed as
Identifiers
What OpenQuestion holds
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.