ArticleAmerican journal of human genetics2004
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00037778 (Genetic Modifiers of Cystic Fibrosis), which is not on this map. Cited by 81 papers, 4 of them syntheses that pooled it.
What it found
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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.
Genetic Modifiers of Cystic Fibrosis: Sibling Study
Who cites it
81 citing papers in PubMed, 4 syntheses or guidelines pooled it, 250 citations in OpenAlex.
- The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.European journal of human genetics : EJHG · 2016Guideline
- Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.The Journal of pediatrics · 2009Guideline
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.European journal of human genetics : EJHG · 2009Guideline
- Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2005Guideline
- Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial.The Lancet. Respiratory medicine · 2015Trial
- Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study.Respiratory research · 2005Trial
- The contribution of short tandem repeats to splicing variation in the human cortex.bioRxiv : the preprint server for biology · 2026Article
- CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.Respiratory research · 2026Article
- Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.Scientific reports · 2026Article
- hnRNP A1 induces aberrantLife science alliance · 2025Article
- The structure, folding kinetics, and dynamics of long poly(UG) RNA.Nucleic acids research · 2025Article
- The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity.International journal of molecular sciences · 2025Article
- Clinical Significance of the 5T;12TG Genotype in Pediatric CFSPID: A Retrospective Study.Children (Basel, Switzerland) · 2025Article
- Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR.Basic and clinical andrology · 2025Article
- Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.BMJ open · 2025Article
- Article
- The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2024Observational
- Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis.Diagnostic pathology · 2024Article
- Solution Structure of Poly(UG) RNA.Journal of molecular biology · 2023Article
- Who Modifies the Modifiers: A High-Resolution View of the Genetic Modifiers of Cystic Fibrosis.American journal of respiratory and critical care medicine · 2023Article
21 more citing papers are in PubMed but not listed here.
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Authors and funding
27 authors at 14 institutions in 10 countries.
Funding
Abstract
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in approximately 10% of individuals in the general population. When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. To test whether the number of TG repeats adjacent to 5T influences disease penetrance, we determined TG repeat number in 98 patients with male infertility due to congenital absence of the vas deferens, 9 patients with nonclassic CF, and 27 unaffected individuals (fertile men). Each of the individuals in this study had a severe CFTR mutation on one CFTR gene and 5T on the other. Of the unaffected individuals, 78% (21 of 27) had 5T adjacent to 11 TG repeats, compared with 9% (10 of 107) of affected individuals. Conversely, 91% (97 of 107) of affected individuals had 12 or 13 TG repeats, versus only 22% (6 of 27) of unaffected individuals (P<.00001). Those individuals with 5T adjacent to either 12 or 13 TG repeats were substantially more likely to exhibit an abnormal phenotype than those with 5T adjacent to 11 TG repeats (odds ratio 34.0, 95% CI 11.1-103.7, P<.00001). Thus, determination of TG repeat number will allow for more accurate prediction of benign versus pathogenic 5T alleles.
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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.