ArticleEuropean journal of human genetics : EJHG2018
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 16 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 16 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- Antibiotic treatment for non-tuberculous mycobacteria lung infection in people with cystic fibrosis.The Cochrane database of systematic reviews · 2025Pooled it
- Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis.The Cochrane database of systematic reviews · 2023Pooled it
- Digital technology for monitoring adherence to inhaled therapies in people with cystic fibrosis.The Cochrane database of systematic reviews · 2023Pooled it
- Antifungal therapies for allergic bronchopulmonary aspergillosis in people with cystic fibrosis.The Cochrane database of systematic reviews · 2022Pooled it
- Short-acting inhaled bronchodilators for cystic fibrosis.The Cochrane database of systematic reviews · 2022Pooled it
- Exercise versus airway clearance techniques for people with cystic fibrosis.The Cochrane database of systematic reviews · 2022Pooled it
- Continuous glucose monitoring systems for monitoring cystic fibrosis-related diabetes.The Cochrane database of systematic reviews · 2021Pooled it
- Timing of pancreatic enzyme replacement therapy (PERT) in cystic fibrosis.The Cochrane database of systematic reviews · 2021Pooled it
- Single versus combination intravenous anti-pseudomonal antibiotic therapy for people with cystic fibrosis.The Cochrane database of systematic reviews · 2021Pooled it
- Antibiotic treatment for nontuberculous mycobacteria lung infection in people with cystic fibrosis.The Cochrane database of systematic reviews · 2020Pooled it
- Standard versus biofilm antimicrobial susceptibility testing to guide antibiotic therapy in cystic fibrosis.The Cochrane database of systematic reviews · 2020Pooled it
- Combination antimicrobial susceptibility testing for acute exacerbations in chronic infection of Pseudomonas aeruginosa in cystic fibrosis.The Cochrane database of systematic reviews · 2020Pooled it
- Oral non-steroidal anti-inflammatory drug therapy for lung disease in cystic fibrosis.The Cochrane database of systematic reviews · 2019Pooled it
- Duration of intravenous antibiotic therapy in people with cystic fibrosis.The Cochrane database of systematic reviews · 2019Pooled it
- Eradication therapy for Burkholderia cepacia complex in people with cystic fibrosis.The Cochrane database of systematic reviews · 2019Pooled it
- Airway clearance techniques for cystic fibrosis: an overview of Cochrane systematic reviews.The Cochrane database of systematic reviews · 2019Pooled it
- Citrus Flavonoids for Cystic Fibrosis Treatment.Chembiochem : a European journal of chemical biology · 2025Review
- The Frequency and Potential Implications of HFE Genetic Variants in Children With Cystic Fibrosis.Pediatric pulmonology · 2025Article
- Cystic Fibrosis: A Journey through Time and Hope.International journal of molecular sciences · 2024Review
- Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.PloS one · 2024Article
Corrections and comments
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Authors and funding
17 authors at 10 institutions in 8 countries.
Funding
Abstract
The high incidence of cystic fibrosis (CF) is due to the frequency of the c.1521_1523delCTT variant in the cystic fibrosis transmembrane conductance regulator (CFTR), but its age and origin are uncertain. This gap limits attempts to shed light on the presumed heterozygote selective advantage that accounts for the variant's high prevalence among Caucasian Europeans and Europe-derived populations. In addition, explaining the nature of heterozygosity to screened individuals with one c.1521_1523delCTT variant is challenging when families raise questions about these issues. To address this gap, we obtained DNA samples from 190 patients bearing c.1521_1523delCTT and their parents residing in geographically distinct European populations plus a Germany-derived population in the USA. We identified microsatellites spanning CFTR and reconstructed haplotypes at 10 loci to estimate the time/age of the most recent common ancestor (tMRCA) with the Estiage program. We found that the age estimates differ between northwestern populations, where the mean tMRCA values vary between 4600 and 4725 years, and the southeastern populations where c.1521_1523delCTT seems to have been introduced only about 1000 years ago. The tMRCA values of Central Europeans were intermediate. Thus, our data resolve a controversy by establishing an early Bronze Age origin of the c.1521_1523delCTT allele and demonstrating its likely spread from northwest to southeast during ancient migrations. Moreover, taking the archeological record into account, our results introduce a novel concept by suggesting that Bell Beaker folk were the probable migrating population responsible for the early dissemination of c.1521_1523delCTT in prehistoric Europe.
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