ArticleJournal of medical genetics2007
Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.Human mutation · 2024Pooled it
- CFTR Controls the Activity of NF-κB by Enhancing the Degradation of TRADD.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2016Article
- The Contribution of the Airway Epithelial Cell to Host Defense.Mediators of inflammation · 2015Review
- Characterization of a canine tetranucleotide microsatellite marker located in the first intron of the tumor necrosis factor alpha gene.The Journal of veterinary medical science · 2014Article
- TNF-alpha polymorphisms as a potential modifier gene in the cystic fibrosis.International journal of molecular epidemiology and genetics · 2014Article
- The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients.PloS one · 2014Article
- Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis.European journal of human genetics : EJHG · 2013Article
- Genetic influences on cystic fibrosis lung disease severity.Frontiers in pharmacology · 2013Article
- Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis.European journal of human genetics : EJHG · 2010Article
- Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis.The Journal of investigative dermatology · 2009Article
- Update on gene modifiers in cystic fibrosis.Current opinion in pulmonary medicine · 2008Review
- Complex two-gene modulation of lung disease severity in children with cystic fibrosis.The Journal of clinical investigation · 2008Article
- Gene modifiers in cystic fibrosis.The Journal of clinical investigation · 2008Article
- Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease.JAMA · 2008Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
backgroundPatients with cystic fibrosis with the same mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene differ widely in survival suggesting other factors have a substantial role in mortality.
objectiveTo determine if the genotype distribution of variants in three putative cystic fibrosis modifier genes (tumour necrosis factor alpha (TNFalpha), transforming growth factor beta1 (TGFbeta1) or mannose-binding lectin (MBL2)) differed among patients with cystic fibrosis grouped according to age and survival status.
methodsGenotypes of four variants (TNFalpha-238, TNFalpha-308, TGFbeta1-509 and MBL2 O) were determined in three groups of Caucasians from a single medical centre: 101 children with cystic fibrosis (aged <17 years; mean age 9.4 years), 115 adults with cystic fibrosis (aged > or =17 years; mean age 30.8 years) and 38 non-surviving adults with cystic fibrosis (21 deceased and 17 lung transplant after 17 years of age). Genotypes of 127 healthy Caucasians in the same geographical region were used as controls. Kaplan-Meier and Cox hazard regression were used to evaluate the genotype effect on cumulative survival.
resultsGenotype frequencies among adults and children with cystic fibrosis differed for TNFalpha-238 (G/G vs G/A; p = 0.022) and MBL2 (A/A vs O/O; p = 0.016). When adults with cystic fibrosis were compared to non-surviving adults with cystic fibrosis, genotype frequencies of both genes differed (TNFalpha-238G/G vs G/A; p = 0.0015 and MBL2: A/A vs O/O; p = 0.009). The hazard ratio for TNFalpha-238G/G vs G/A was 0.25 (95% CI 0.06 to 1.0, p = 0.04) and for MBL2 O/O vs A/A or A/O was 2.5 (95% CI 1.3 to 4.9, p = 0.007).
conclusionsTNFalpha-238 G/A and MBL2 O/O genotypes appear to be genetic modifiers of survival of cystic fibrosis.
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