Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine
Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene mutations. CF is characterized by a high phenotypic variability present even in patients with the same genotype. This is due to the interventio...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-12-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/24/5821 |
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| author | Lăcrămioara Ionela Butnariu Elena Țarcă Elena Cojocaru Cristina Rusu Ștefana Maria Moisă Maria-Magdalena Leon Constantin Eusebiu Vlad Gorduza Laura Mihaela Trandafir |
| author_facet | Lăcrămioara Ionela Butnariu Elena Țarcă Elena Cojocaru Cristina Rusu Ștefana Maria Moisă Maria-Magdalena Leon Constantin Eusebiu Vlad Gorduza Laura Mihaela Trandafir |
| author_sort | Lăcrămioara Ionela Butnariu |
| collection | DOAJ |
| description | Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene mutations. CF is characterized by a high phenotypic variability present even in patients with the same genotype. This is due to the intervention of modifier genes that interact with both the CFTR gene and environmental factors. The purpose of this review is to highlight the role of non-CFTR genetic factors (modifier genes) that contribute to phenotypic variability in CF. We analyzed literature data starting with candidate gene studies and continuing with extensive studies, such as genome-wide association studies (GWAS) and whole exome sequencing (WES). The results of both types of studies revealed that the number of modifier genes in CF patients is impressive. Their identification offers a new perspective on the pathophysiological mechanisms of the disease, paving the way for the understanding of other genetic disorders. In conclusion, in the future, genetic analysis, such as GWAS and WES, should be performed routinely. A challenge for future research is to integrate their results in the process of developing new classes of drugs, with a goal to improve the prognosis, increase life expectancy, and enhance quality of life among CF patients. |
| first_indexed | 2024-03-10T03:50:38Z |
| format | Article |
| id | doaj.art-4322990395a44345b792697c389506e9 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T03:50:38Z |
| publishDate | 2021-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-4322990395a44345b792697c389506e92023-11-23T08:56:43ZengMDPI AGJournal of Clinical Medicine2077-03832021-12-011024582110.3390/jcm10245821Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern MedicineLăcrămioara Ionela Butnariu0Elena Țarcă1Elena Cojocaru2Cristina Rusu3Ștefana Maria Moisă4Maria-Magdalena Leon Constantin5Eusebiu Vlad Gorduza6Laura Mihaela Trandafir7Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Surgery II—Pediatric Surgery, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Morphofunctional Sciences I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Mother and Child, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaMedical I Department, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Mother and Child, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaCystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene mutations. CF is characterized by a high phenotypic variability present even in patients with the same genotype. This is due to the intervention of modifier genes that interact with both the CFTR gene and environmental factors. The purpose of this review is to highlight the role of non-CFTR genetic factors (modifier genes) that contribute to phenotypic variability in CF. We analyzed literature data starting with candidate gene studies and continuing with extensive studies, such as genome-wide association studies (GWAS) and whole exome sequencing (WES). The results of both types of studies revealed that the number of modifier genes in CF patients is impressive. Their identification offers a new perspective on the pathophysiological mechanisms of the disease, paving the way for the understanding of other genetic disorders. In conclusion, in the future, genetic analysis, such as GWAS and WES, should be performed routinely. A challenge for future research is to integrate their results in the process of developing new classes of drugs, with a goal to improve the prognosis, increase life expectancy, and enhance quality of life among CF patients.https://www.mdpi.com/2077-0383/10/24/5821cystic fibrosisCFTRmodifier genesphenotypic variabilityGWAS |
| spellingShingle | Lăcrămioara Ionela Butnariu Elena Țarcă Elena Cojocaru Cristina Rusu Ștefana Maria Moisă Maria-Magdalena Leon Constantin Eusebiu Vlad Gorduza Laura Mihaela Trandafir Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine Journal of Clinical Medicine cystic fibrosis CFTR modifier genes phenotypic variability GWAS |
| title | Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine |
| title_full | Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine |
| title_fullStr | Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine |
| title_full_unstemmed | Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine |
| title_short | Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine |
| title_sort | genetic modifying factors of cystic fibrosis phenotype a challenge for modern medicine |
| topic | cystic fibrosis CFTR modifier genes phenotypic variability GWAS |
| url | https://www.mdpi.com/2077-0383/10/24/5821 |
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