The genetics and genomics of cystic fibrosis.

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

Journal

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
ISSN: 1873-5010
Titre abrégé: J Cyst Fibros
Pays: Netherlands
ID NLM: 101128966

Informations de publication

Date de publication:
03 2020
Historique:
received: 23 08 2019
revised: 06 11 2019
accepted: 08 11 2019
pubmed: 28 12 2019
medline: 13 10 2021
entrez: 28 12 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.jcf.2019.11.003 PMID: 31879237 PMC: PMC8008819
pubmed: 31879237
pii: S1569-1993(19)30965-8
doi: 10.1016/j.jcf.2019.11.003
pmc: PMC8008819
mid: NIHMS1675336
pii:
doi:

Substances chimiques

Cystic Fibrosis Transmembrane Conductance Regulator 126880-72-6

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

S5-S9

Subventions

Organisme : NIDDK NIH HHS
ID : R01 DK044003
Pays : United States

Informations de copyright

Copyright © 2019 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest None.

Références

Eur Respir J. 2001 Jun;17(6):1195-200
pubmed: 11491164
Hum Genet. 2016 Sep;135(9):983-92
pubmed: 27325484
Mol Biol Cell. 2016 Feb 1;27(3):424-33
pubmed: 26823392
Diabetes. 2013 Oct;62(10):3627-35
pubmed: 23670970
J Intern Med. 2015 Feb;277(2):155-166
pubmed: 25266997
JCI Insight. 2018 Jul 26;3(14):
pubmed: 30046002
J Biol Chem. 2017 Jun 30;292(26):10938-10949
pubmed: 28461336
N Engl J Med. 1990 Nov 29;323(22):1517-22
pubmed: 2233932
Lancet Respir Med. 2016 Aug;4(8):662-674
pubmed: 27053340
Nat Genet. 2012 May;44(5):562-9
pubmed: 22466613
Am J Respir Crit Care Med. 2019 May 1;199(9):1116-1126
pubmed: 30888834
Science. 1989 Sep 8;245(4922):1066-73
pubmed: 2475911
Hum Mol Genet. 2008 Jul 15;17(14):2228-37
pubmed: 18424453
J Clin Invest. 2008 Mar;118(3):1040-9
pubmed: 18292811
J Clin Invest. 2020 Jan 2;130(1):272-286
pubmed: 31581148
N Engl J Med. 2018 Oct 25;379(17):1612-1620
pubmed: 30334692
J Clin Endocrinol Metab. 2009 Apr;94(4):1302-9
pubmed: 19126627
Genet Med. 2019 Sep;21(9):2151-2155
pubmed: 30739910
JAMA. 2008 Jan 30;299(4):417-24
pubmed: 18230779
Hum Mol Genet. 2016 Oct 15;25(20):4590-4600
pubmed: 28171547
FASEB J. 2004 May;18(7):875-7
pubmed: 15001557
Nat Genet. 1993 Nov;5(3):274-8
pubmed: 7506096
J Cyst Fibros. 2019 Jan;18(1):22-34
pubmed: 29934203
Hum Mutat. 2019 Jun;40(6):742-748
pubmed: 30851139
Am J Hum Genet. 2017 May 4;100(5):751-765
pubmed: 28475858
Hum Mutat. 2019 Mar;40(3):326-334
pubmed: 30488522
Hum Genet. 2014 Feb;133(2):151-61
pubmed: 24057835
Nat Genet. 2013 Oct;45(10):1160-7
pubmed: 23974870
mBio. 2017 Dec 19;8(6):
pubmed: 29259090
Genet Med. 2014 Aug;16(8):625-32
pubmed: 24556927
PLoS Genet. 2014 Jul 17;10(7):e1004376
pubmed: 25033378
Eur J Hum Genet. 2007 Nov;15(11):1156-62
pubmed: 17625509
JAMA. 2009 Sep 9;302(10):1076-83
pubmed: 19738092
Am J Respir Cell Mol Biol. 2017 May;56(5):568-574
pubmed: 27983869
N Engl J Med. 2005 Oct 6;353(14):1443-53
pubmed: 16207846
Am J Respir Cell Mol Biol. 2019 Dec;61(6):755-764
pubmed: 31189070
Nat Rev Genet. 2015 Jan;16(1):45-56
pubmed: 25404111
Science. 1989 Sep 8;245(4922):1059-65
pubmed: 2772657
N Engl J Med. 2018 Oct 25;379(17):1599-1611
pubmed: 30334693
PLoS Genet. 2019 Feb 26;15(2):e1008007
pubmed: 30807572
Genet Med. 2002 Sep-Oct;4(5):319-23
pubmed: 12394343
Diabetologia. 2009 Sep;52(9):1858-65
pubmed: 19585101
Hum Mutat. 2017 Oct;38(10):1297-1315
pubmed: 28603918
BMC Med Genet. 2004 Aug 02;5:19
pubmed: 15287992
PLoS Genet. 2018 Nov 16;14(11):e1007723
pubmed: 30444886
Nat Genet. 2011 Jun;43(6):539-46
pubmed: 21602797
Am J Hum Genet. 2018 Jun 7;102(6):1062-1077
pubmed: 29805046
Front Pharmacol. 2018 Dec 07;9:1429
pubmed: 30581387
Annu Rev Genomics Hum Genet. 2018 Aug 31;19:201-222
pubmed: 29709203
Nat Commun. 2015 Sep 29;6:8382
pubmed: 26417704
Science. 1989 Sep 8;245(4922):1073-80
pubmed: 2570460
Curr Opin Pharmacol. 2017 Jun;34:76-82
pubmed: 29032041

Auteurs

N Sharma (N)

Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.

G R Cutting (GR)

Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America. Electronic address: gcutting@jhmi.edu.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Mucoviscidose › The genetics and genomics of cystic fibrosis.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Pompes ioniques › Transporteurs d'anions › Transporteurs d'anions organiques › Transporteurs d'anions organiques ATP-dépendants › Protéines associées à la multirésistance aux médicaments › Protéine CFTR › The genetics and genomics of cystic fibrosis.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes modificateurs › The genetics and genomics of cystic fibrosis.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › The genetics and genomics of cystic fibrosis.
questionsmedicales.fr › Phénomènes génétiques › Liaison génétique › The genetics and genomics of cystic fibrosis.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › The genetics and genomics of cystic fibrosis.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › The genetics and genomics of cystic fibrosis.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The genetics and genomics of cystic fibrosis.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Enquêtes de santé › Indicateurs d'état de santé › Acuité des besoins du patient › Indice de gravité de la maladie › The genetics and genomics of cystic fibrosis.