ArticleJournal of medical genetics1999
Cystic fibrosis carrier frequencies in populations of African origin.
Article in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled 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.
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
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- HLA alleles and haplotypes in Sudanese population and their relationship with Mediterraneans.Scientific reports · 2023Pooled it
- Homozygous 896delT (c.764del) in Somali-American Siblings With Cystic Fibrosis.Case reports in pulmonology · 2026Article
- Cystic fibrosis transmembrane conductance regulator modulator therapy and lived experiences in South Africa: A mixed-methods study.The South African journal of physiotherapy · 2026Article
- From past to progress: a retrospective study on CFTR genetic testing in South Africa.Journal of community genetics · 2025Article
- Improved allele frequencies in gnomAD through local ancestry inference.Nature communications · 2025Article
- Cystic Fibrosis Care in South Africa: Facing the Challenge of Diversity and Inequality.Pediatric pulmonology · 2025Review
- Proteostasis landscapes of cystic fibrosis variants reveal drug response vulnerability.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Proteostasis Landscapes of Cystic Fibrosis Variants Reveals Drug Response Vulnerability.bioRxiv : the preprint server for biology · 2025Article
- Racial inequities and rareJournal of clinical & translational endocrinology · 2024Article
- Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.Molecular genetics and genomics : MGG · 2024Article
- Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.Molecular therapy. Nucleic acids · 2023Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination.International journal of molecular sciences · 2023Article
- Cystic Fibrosis: A Descriptive Analysis of Deaths in a Two-Decade Period in Brazil According to Age, Race, and Sex.Diagnostics (Basel, Switzerland) · 2023Article
- The burden of cystic fibrosis in North Africa.Frontiers in genetics · 2023Review
- Clinical genomics and precision medicine.Genetics and molecular biology · 2022Article
- Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.ERJ open research · 2021Article
- Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.Frontiers in genetics · 2021Article
- Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.Translational science of rare diseases · 2020Article
- Personalised medicine for non-classic cystic fibrosis resulting from rare CFTR mutations.The European respiratory journal · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF) is a common autosomal recessive disorder in populations of European descent. However, very little is known about CF in populations of African origin among whom it has been believed to be extremely rare. The aim of this study was to determine if this is the case or whether it is under-reported. A CFTR mutation, 3120+1G-->A, which was first reported in three African-American CF patients, has been shown to account for 9-14% of African-American CF chromosomes. It has also been found in 4/6 CF chromosomes in South African blacks and one CF chromosome of Cameroonian origin. In order to determine the carrier frequency of the 3120+1G-->A mutation in Africa, 1360 unrelated, healthy subjects were screened. Nine carriers were identified. In addition, two out of five black CF patients with positive sweat tests were found to be heterozygous for the 3120+1G-->A mutation and two out of another four black patients with symptoms suggestive of CF, but unconfirmed by sweat tests, were heterozygous for the D1270N mutation. A further three CFTR mutations, A559T, S1255X, and 444delA, which had been found in African-American CF patients, were not identified in the patients or in over 373 healthy subjects tested. The 3120+1G-->A mutation has a carrier frequency of 1 in 91 (8/728) in South African blacks with a 95% confidence interval of 1 in 46 to 1 in 197. Since this mutation accounts for between 15% and 65% of CF chromosomes in South African blacks, a corrected CF carrier frequency would be between 1 in 14 and 1 in 59. Hence, the incidence of CF would be predicted to be between 1 in 784 and 1 in 13924 births in this population. There are several possible reasons why these people are not being detected. Some of these are misdiagnosis as chronic pulmonary infection, malnutrition, tuberculosis, infantile diarrhoea, failure to thrive, or a high infant mortality rate.
Indexed as
Identifiers
9950364PMC1762947W1854319952What 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.