Update on gene modifiers in cystic fibrosis
Collaco JM, Cutting GR.
Eudowood Division of Pediatric Respiratory Sciences,
The Johns Hopkins Medical Institutions,
Baltimore, Maryland, USA.
Curr Opin Pulm Med. 2008 Nov;14(6):559-66.
ABSTRACTPURPOSE OF REVIEW: Cystic fibrosis (CF) is a common, life-limiting monogenic disease, which typically manifests as progressive bronchiectasis, exocrine pancreatic dysfunction, and recurrent sinopulmonary infections. Although the gene responsible for CF (CFTR) was described in 1989, it has become increasingly evident that modifier genes and environmental factors play substantial roles in determining the severity of disease, particularly lung disease. Identifying these factors is crucial in devising therapies and other interventions to decrease the morbidity and mortality associated with this disorder. RECENT FINDINGS: Although many genes have been proposed as potential modifiers of CF, only a handful have withstood the test of replication. Several of the replicated findings reveal that genes affecting inflammation and infection response play a key role in modifying CF lung disease severity. Interactions between CFTR genotype, modifier genes, and environmental factors have been documented to influence lung function measures and infection status in CF patients. SUMMARY: Several genes have been demonstrated to affect disease severity in CF. Furthermore, it is likely that gene-gene and gene-environment interactions can explain a substantial portion of the variation of lung disease. Ongoing genome-wide studies are likely to identify novel genetic modifiers. Continued exploration of the role of genetic and nongenetic modifiers of CF is likely to yield new options for combating this debilitating disease.Cystic fibrosis
Selecting potential children
Preimplantation genetic diagnosis
Newborn screening for cystic fibrosis
Francis Galton and contemporary eugenics
Gene therapy and performance enhancement
The commercialisation of pre-natal enhancement
and further reading
The Good Drug Guide
The Abolitionist Project
The Hedonistic Imperative
The Reproductive Revolution
MDMA: Utopian Pharmacology
Critique of Huxley's Brave New World