[SLC6A14, a modifier gene in cystic fibrosis]

M Ruffin; J Mercier; C Calmel; J Mésinèle; H Corvol; L Guillot

doi:10.1016/j.rmr.2020.02.008

[SLC6A14, a modifier gene in cystic fibrosis]

Rev Mal Respir. 2020 Mar;37(3):218-221. doi: 10.1016/j.rmr.2020.02.008. Epub 2020 Mar 4.

[Article in French]

Authors

M Ruffin¹, J Mercier², C Calmel², J Mésinèle², H Corvol³, L Guillot²

Affiliations

¹ Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France. Electronic address: manon.ruffin@inserm.fr.
² Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France.
³ Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France; Pneumologie pédiatrique, AP-HP, hôpital Trousseau, Paris, France.

PMID: 32146055
DOI: 10.1016/j.rmr.2020.02.008

Abstract

Although cystic fibrosis is a monogenic disease, a considerable clinical phenotypic variability is observed in patients with the same CFTR mutations. Thanks to the development of new and powerful tools for carrying out genetic studies, several genes called "modifier genes" have been identified as being associated with the severity of the lung function disorder in cystic fibrosis patients. Among these genes, SLC6A14 may modulate the anti-infective response and epithelial integrity of the airways, thus providing a potential therapeutic target to improve the patient's lung function.

Keywords: Cystic fibrosis; Gènes modificateurs; Infection; Modifier genes; Mucoviscidose; SLC6A14.

Publication types

Review

MeSH terms

Amino Acid Transport Systems / genetics*
Amino Acid Transport Systems / physiology
Animals
Cystic Fibrosis / genetics*
Cystic Fibrosis / pathology
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Epistasis, Genetic / physiology
Genes, Modifier*
Genotype
Humans
Mutation

Substances

Amino Acid Transport Systems
CFTR protein, human
SLC6A14 protein, human
Cystic Fibrosis Transmembrane Conductance Regulator