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Genomic Variation and Epidemiology of Cystic Fibrosis
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Genomic Variation and Epidemiology of Cystic Fibrosis

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 October 2025) | Viewed by 4665

Special Issue Editor

Prof. Dr. Fernando Augusto Lima Marson

E-Mail Website
Guest Editor
Postgraduate Program in Health Sciences, Universidade São Francisco, Bragança Paulista, São Paulo 12916-220, Brazil
Interests: epidemiology; infection; respiratory; virus infection
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

As Guest Editor, I am delighted to personally invite you to submit a paper for our Special Issue on Genomic Variation and Epidemiology of Cystic Fibrosis in the International Journal of Molecular Sciences (Section: Molecular Genetics and Genomics). If accepted, your paper will be read by other investigators, practitioner scholars, and theorists who have addressed various aspects of the diagnosis, assessment, and treatment of infectious diseases, including the epidemiological approaches used to investigate cystic fibrosis. For this Special Issue, we are recruiting colleagues like yourself who will be submitting papers based on original findings, mainly those associated with CFTR genotype, cystic fibrosis epidemiology, and personalized/precision medicine that can be used to manage the disease. However, other types of papers will be considered, such as targeted literature reviews, systematic reviews, meta-analyses, and theoretical papers. 

The aim of the Special Issue is to assemble papers that announce, recruit, and publish new papers on cystic fibrosis and the occurrence of genomic variation and epidemiology that would be of special interest to readers of the International Journal of Molecular Sciences. Thus, papers published in this Special Issue should significantly contribute to the literature focusing on the genomic variation and epidemiology of cystic fibrosis that has affected the entire cystic fibrosis population and caregivers who deserve special attention, especially scientists and healthcare managers.

In this Special Issue, original research articles, reviews, and clinical papers with molecular studies are welcome.

I look forward to receiving your contributions.

Prof. Dr. Fernando Augusto Lima Marson
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • CFTR
  • epidemiology
  • genetics
  • gene expression
  • personalized medicine
  • precision medicine

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Published Papers (3 papers)

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24 pages, 2387 KB  
Article
Role of the ADAM33 rs2280091 Variant in Modulating Lung Function in Cystic Fibrosis
by Vinícius Santiago dos Santos, Lucas Silva Mello, Luiz Felipe Azevedo Marques, Luana Rodrigues Silva, Carmen Sílvia Bertuzzo, José Dirceu Ribeiro and Fernando Augusto Lima Marson
Int. J. Mol. Sci. 2025, 26(23), 11583; https://doi.org/10.3390/ijms262311583 - 29 Nov 2025
Viewed by 116
Abstract
Cystic fibrosis (CF) is a rare genetic disease caused by pathogenic variants in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, with wide clinical variability influence not only by the CFTR genotype but also by environmental and modifier genes such as [...] Read more.
Cystic fibrosis (CF) is a rare genetic disease caused by pathogenic variants in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, with wide clinical variability influence not only by the CFTR genotype but also by environmental and modifier genes such as ADAM33 (A Disintegrin and Metalloproteinase Domain 33). The rs2280091 variant in ADAM33 may affect lung function and contribute to differences in disease severity. This study investigated the association between this genetic variant and lung function in CF patients. This cross-sectional study included 55 CF patients from a Brazilian center, with diagnosis confirmed by sweat testing and CFTR genotyping. Pulmonary function was evaluated by spirometry before and after bronchodilator (BD) administration according to the American Thoracic Society/European Respiratory Society guidelines, analyzing Forced Vital Capacity (FVC), Forced Expiratory Volume in one second (FEV1), FEV1/FVC ratio, Forced Expiratory Flow at 25%, 50%, and 75% of FVC (FEF25%, FEF50%, and FEF75%), mean Forced Expiratory Flow between 25% and 75% of FVC (FEF25–75%), and Maximal Expiratory Forced Flow (MEF). The ADAM33 rs2280091 variant was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and statistical analyses included Kruskal–Wallis and Mann–Whitney tests, chi-square (χ2) tests, and calculation of odds ratios (ORs) with 95% confidence intervals (95% CI). The study included 55 CF patients, predominantly female (96.4%) and Caucasian (52.7%), with a median age of 17 years. CFTR genotyping revealed F508del/F508del as the most common genotype (52.7%). Analysis of the ADAM33 rs2280091 variant demonstrated that the AA genotype was most frequent in both CF patients (69.1%) and healthy controls (78.6%). Notably, the GG genotype was significantly enriched in CF patients (18.2%) compared with the controls (0.02%), yielding an odds ratio of 12.06 (95% CI: 4.86–29.91), while the G allele was also associated with increased disease risk (24.5% vs. 11.6%). Pulmonary function assessment indicated that carriers of the GG genotype or G allele had higher Forced Expiratory Flow parameters (FEF25%, FEF50%, FEF25–75%, and MEF) and improved BD responsiveness, suggesting a potential modulatory role of ADAM33 in peripheral airway function in CF. The G allele of the ADAM33 rs2280091 variant was more frequent among recruited CF patients and associated with improved peripheral airway function and BD response. These findings may reflect a survivor effect, in which carriers of this allele are more likely to reach clinical follow-up and recruitment rather than indicating a direct association with increased disease risk. Full article
(This article belongs to the Special Issue Genomic Variation and Epidemiology of Cystic Fibrosis)
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12 pages, 13697 KB  
Article
Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS
by Qiliang Ding, Christopher D. Hofich, Tifani B. Kellogg, Rhonda K. Kuennen, Kaitlin N. Paxton, Sarah M. Thieke, Kandelaria M. Rumilla and Linda Hasadsri
Int. J. Mol. Sci. 2024, 25(15), 8533; https://doi.org/10.3390/ijms25158533 - 5 Aug 2024
Cited by 2 | Viewed by 2528
Abstract
Cystic fibrosis is caused by biallelic pathogenic variants in the CFTR gene, which contains a polymorphic (TG)mTn sequence (the “poly-T/TG tract”) in intron 9. While T9 and T7 alleles are benign, T5 alleles with longer TG repeats, [...] Read more.
Cystic fibrosis is caused by biallelic pathogenic variants in the CFTR gene, which contains a polymorphic (TG)mTn sequence (the “poly-T/TG tract”) in intron 9. While T9 and T7 alleles are benign, T5 alleles with longer TG repeats, e.g., (TG)12T5 and (TG)13T5, are clinically significant. Thus, professional medical societies currently recommend reporting the TG repeat size when T5 is detected. Sanger sequencing is a cost-effective method of genotyping the (TG)mTn tract; however, its polymorphic length substantially complicates data analysis. We developed CFTR-TIPS, a freely available web-based software tool that infers the (TG)mTn genotype from Sanger sequencing data. This tool detects the (TG)mTn tract in the chromatograms, quantifies goodness of fit with expected patterns, and visualizes the results in a graphical user interface. It is broadly compatible with any Sanger chromatogram that contains the (TG)mTn tract ± 15 bp. We evaluated CFTR-TIPS using 835 clinical samples previously analyzed in a CLIA-certified, CAP-accredited laboratory. When operated fully automatically, CFTR-TIPS achieved 99.8% concordance with our clinically validated manual workflow, while generally taking less than 10 s per sample. There were two discordant samples: one due to a co-occurring heterozygous duplication that confounded the tool and the other due to incomplete (TG)mTn tract detection in the reverse chromatogram. No clinically significant misclassifications were observed. CFTR-TIPS is a free, accurate, and rapid tool for CFTR (TG)mTn tract genotyping using cost-effective Sanger sequencing. This tool is suitable both for automated use and as an aid to manual review to enhance accuracy and reduce analysis time. Full article
(This article belongs to the Special Issue Genomic Variation and Epidemiology of Cystic Fibrosis)
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10 pages, 883 KB  
Case Report
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families
by Simone Ahting, Constance Henn, Maike vom Hove, Vincent Strehlow, Patricia Duffek, Sophie Behrendt, Stephan Drukewitz, Jasmin Berger, Simon Y. Graeber and Julia Hentschel
Int. J. Mol. Sci. 2025, 26(10), 4487; https://doi.org/10.3390/ijms26104487 - 8 May 2025
Cited by 1 | Viewed by 1406
Abstract
Accurate genetic diagnosis is essential for appropriate treatment in cystic fibrosis (CF). Large copy number variants like duplications in the CFTR gene are rare and often classified as variants of uncertain significance (VUSs) due to unknown characteristics of the inserted material, complicating diagnosis [...] Read more.
Accurate genetic diagnosis is essential for appropriate treatment in cystic fibrosis (CF). Large copy number variants like duplications in the CFTR gene are rare and often classified as variants of uncertain significance (VUSs) due to unknown characteristics of the inserted material, complicating diagnosis and treatment decisions. We identified a previously uncharacterized exon 22 duplication (CFTRdup22) in the CFTR gene in two anamnestically unrelated people with CF, both exhibiting a mild phenotype. Initial classification as a VUS was based on standard genetic testing. We employed a custom next-generation sequencing (NGS) panel to determine the exact breakpoints of the duplication and conducted mRNA sequencing to confirm its effect on splicing. DNA and RNA analyses allowed for precise breakpoint determination, confirming that the duplication was in tandem and the reading frame remained intact. This, as well as a residual CFTRdup22 function of ~30% as measured via intestinal current measurement, is consistent with a clinically milder CF phenotype. Collectively, the precise characterization of the variants’ breakpoints, localization and orientation enabled us to reclassify the variant as likely pathogenic. This study highlights the importance of advanced genetic techniques, such as NGS and breakpoint analysis, in accurately identifying CF-causing variants. It underscores the importance of a comprehensive approach and persistence when suspecting a specific genetic condition. This can aid in reclassifying VUSs, providing a definitive diagnosis for the affected family and enabling appropriate therapeutic interventions, including the use of CFTR modulators. Full article
(This article belongs to the Special Issue Genomic Variation and Epidemiology of Cystic Fibrosis)
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