Modifier genes in Mendelian disorders: the example of cystic fibrosis
Open accessAbstract
In the past three decades, scientists have had immense success in identifying genes and their variants that contribute to an array of diseases. While the identification of such genetic variants has informed our knowledge of the etiologic bases of diseases, there continues to be a substantial gap in our understanding of the factors that modify disease severity. Monogenic diseases provide an opportunity to identify modifiers as they have uniform etiology, detailed phenotyping of affected individuals, and familial clustering. Cystic fibrosis (CF) is among the more common life‐shortening recessive disorders that displays wide variability in clinical features and survival. Considerable progress has been made in elucidating the contribution of genetic and nongenetic factors to CF. Allelic variation in CFTR, the gene responsible for CF, correlates with some aspects of the disease. However, lung function, neonatal intestinal obstruction, diabetes, and anthropometry display strong genetic control independent of CFTR, and candidate gene studies have revealed genetic modifiers underlying these traits. The application of genome‐wide techniques holds great promise for the identification of novel genetic variants responsible for the heritable features and complications of CF. Since the genetic modifiers are known to alter the course of disease, their protein products become immediate targets for therapeutic intervention.
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Previous studies have shown that modifier genes, such as nuclear hormone receptors, have the potential to reset various networks related to retinal disease phenotypes, such as photoreceptor development, phototransduction, metabolism, cone cell development, inflammation, and cell survival, thus restoring homeostasis in the retina to a healthy state.
“Previous studies have shown that modifier genes, such as nuclear hormone receptors, have the potential to “reset” various networks related to retinal disease phenotypes, such as photoreceptor development, phototransduction, metabolism, cone cell development, inflammation, and cell survival, thus restoring the homeostasis in the retina to a healthy state.47,50–53”
From Gene Therapy for Retinal Degenerative Diseases: Progress, Challenges, and Future Directions (2023) · cites this paper as [47]
Modifier gene therapy has the potential to alter the retinal disease state even in the absence of a genetic diagnosis or in the absence of a gene therapy specific to the mutated gene.
“Modifier gene therapy has the potential to alter the retinal disease state even in the absence of a genetic diagnosis or in the absence of a gene therapy specific to the mutated gene in one of these patients.47,50–53”
From Gene Therapy for Retinal Degenerative Diseases: Progress, Challenges, and Future Directions (2023) · cites this paper as [47]
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Stanke, F., Tümmler, B., & Becker, T. (2006) · New England Journal of Medicine · doi:10.1056/nejmc052980 · Cited by 9 · see citing works
Associação entre deficiência de alfa-1-antitripsina e a gravidade da fibrose cística
de Faria, E. J., de Faria, I. C. J., Alvarez, A. E., et al. (2005) · Jornal de Pediatria · doi:10.1590/s0021-75572005000800013 · Cited by 6 · see citing works
Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity
de Faria, E. J., de Faria, I. C. J., Alvarez, A. E., et al. (2005) · Jornal de Pediatria · doi:10.2223/jped.1423 · Cited by 4 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- [93]Stoltz DA Meyerholz DK Pezzulo AA Cystic fibrosis pigs develop lung disease and exhibit defective bacterial eradication at birth Sci. Trans. Med 2010 2 29ra31 PMC2889616 20427821
Cited by
Sorted by citations
International Consensus Statement on Allergy and Rhinology: Rhinosinusitis
Orlandi, R. R., Kingdom, T. T., Hwang, P. H., Smith, T. L., Alt, J. A., Baroody, F. M., Batra, P. S., Bernal‐Sprekelsen, M., Bhattacharyya, N., Chandra, R. K., et al. (2016) · International Forum of Allergy & Rhinology · doi:10.1002/alr.21695 · Cited by 892 · see citing works
A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
Blair, D. R., Lyttle, C. S., Mortensen, J. M., Bearden, C. F., Jensen, A. B., Khiabanian, H., Melamed, R., Rabadan, R., Bernstam, E. V., Brunak, S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.08.030 · Cited by 215 · see citing works
Gene Therapy for Retinal Degenerative Diseases: Progress, Challenges, and Future Directions
Drag, S., Dotiwala, F., & Upadhyay, A. K. (2023) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.64.7.39 · Cited by 145 · see citing works
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
Zhu, X., Need, A. C., Petrovski, S., & Goldstein, D. B. (2014) · Nature Neuroscience · doi:10.1038/nn.3713 · Cited by 131 · see citing works
Modifier genes and the plasticity of genetic networks in mice
Hamilton, B. A., & Yu, B. D. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002644 · Cited by 78 · see citing works
Cruz, N. M., Yuan, Y., Leehy, B. D., Baid, R., Kompella, U., DeAngelis, M. M., Escher, P., & Haider, N. B. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087942 · Cited by 47 · see citing works
- Authors
- Cutting, G. R.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Cutting, Garry R.
- ORCID
- Cutting, Garry R.
- Venue
- Annals of the New York Academy of Sciences
- Publisher
- Wiley
- Published
- 2010-12
- Volume
- 1214
- Issue
- 1
- Pages
- 57-69
- ISSN
- 0077-8923 (ISSN-L)
- 1749-6632
- PMC
- PMC3040597
- OpenAlex
- W2104953797
- Cited by
- 271
- References
- 98
- Citations by year
- 2026: 1 · 2025: 11 · 2024: 6 · 2023: 9 · 2022: 12 · 2021: 20 · 2020: 13 · 2019: 22 · 2018: 25 · 2017: 23 · 2016: 21 · 2015: 20 · 2014: 26 · 2013: 18 · 2012: 25
- FWCI
- 3.40
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annals of the New York Academy of Sciences (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R01HL068927)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- cystic fibrosis, genetic modifiers, disease severity, CFTR, monogenic disorders, lung function, intestinal obstruction, diabetes mellitus, anthropometry, candidate gene association, genome-wide association study, therapeutic target
- MeSH terms
- Alleles, Cystic Fibrosis, Humans, Multifactorial Inheritance, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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