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

Authors Gallati S

Received 7 March 2014

Accepted for publication 10 May 2014

Published 10 July 2014 Volume 2014:7 Pages 133—146


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Sabina Gallati

Division of Human Genetics, Department of Pediatrics, and Department of Clinical Research, Inselspital, University of Berne, Berne, Switzerland

Abstract: 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.

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

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