Disease-modifying genes and monogenic disorders: experience in cystic fibrosis

Gallati, Sabina (2014). Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. The application of clinical genetics, 7, pp. 133-146. Dove Press 10.2147/TACG.S18675

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The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Significant advances in genetic technologies and molecular medicine allow huge amounts of information to be generated from individual samples within a reasonable time frame. This review focuses on the role of modifier genes using the example of cystic fibrosis, the most common lethal autosomal recessive disorder in the white population, and discusses the advantages and limitations of candidate gene approaches versus genome-wide association studies. Moreover, the implications of modifier gene research for other monogenic disorders, as well as its significance for diagnostic, prognostic, and therapeutic approaches are summarized. Increasing insight into modifying mechanisms opens up new perspectives, dispelling the idea of genetic disorders being caused by one single gene.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Humangenetik
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Gallati, Sabina

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1178-704X

Publisher:

Dove Press

Language:

English

Submitter:

André Schaller

Date Deposited:

19 Mar 2015 12:24

Last Modified:

21 Mar 2015 02:11

Publisher DOI:

10.2147/TACG.S18675

PubMed ID:

25053892

Uncontrolled Keywords:

modifier genes, cystic fibrosis, genome wide association studies, candidate gene approach, genotype, phenotype

BORIS DOI:

10.7892/boris.65362

URI:

https://boris.unibe.ch/id/eprint/65362

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