The genetics and genomics of cystic fibrosis

N Sharma; G R Cutting

doi:10.1016/j.jcf.2019.11.003

The genetics and genomics of cystic fibrosis

J Cyst Fibros. 2020 Mar;19 Suppl 1(Suppl 1):S5-S9. doi: 10.1016/j.jcf.2019.11.003. Epub 2019 Dec 23.

Authors

N Sharma¹, G R Cutting²

Affiliations

¹ Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
² Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America. Electronic address: [email protected].

Abstract

Genetics is the branch of biology concerned with study of individual genes and how they work whereas genomics is involved with the analysis of all genes and their interactions. Both of these approaches have been applied extensively to CF. Identification of the CFTR gene initiated the dissection of CF genetics at the molecular level. Subsequently, thousands of variants were found in the gene and the functional consequences of a subset have been studied in detail. The completion of the human genome ushered in a new phase of study where the role of genes beyond CFTR could be evaluated for their contribution to the severity of CF. This will be a brief overview of the contribution of these complementary methods to our understanding of CF pathogenesis.

Keywords: Association; CFTR; Cystic fibrosis; Genetic modifiers; Linkage.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Cystic Fibrosis* / genetics
Cystic Fibrosis* / physiopathology
Genes, Modifier
Genetic Association Studies
Genetic Linkage
Genetic Techniques*
Genetic Testing / methods
Humans
Severity of Illness Index

Substances

Cystic Fibrosis Transmembrane Conductance Regulator

Grants and funding

R01 DK044003/DK/NIDDK NIH HHS/United States