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Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
03, 2020;19 Suppl 1 S5-S9.

The genetics and genomics of cystic fibrosis.

N Sharma, G R Cutting
Author Information
  1. N Sharma: Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
  2. G R Cutting: Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America. Electronic address: gcutting@jhmi.edu.
PMID: 31879237 DOI: 10.1016/j.jcf.2019.11.003

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

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Grants

  1. R01 DK044003/NIDDK NIH HHS

MeSH Term

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genes, Modifier
Genetic Association Studies
Genetic Linkage
Genetic Techniques
Genetic Testing
Humans
Severity of Illness Index

Chemicals

Cystic Fibrosis Transmembrane Conductance Regulator
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review
Article has an altmetric score of 1

Word Cloud

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