ArticleEuropean journal of human genetics : EJHG2010
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis.
Article in European journal of human genetics : EJHG, 2010. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.Human mutation · 2024Pooled it
- A Narrative Review of Gene-Environment Interactions in Pediatric Pulmonology.Pediatric pulmonology · 2026Review
- Article
- Subversion of the Complement System by Pseudomonas aeruginosa.Journal of bacteriology · 2023Review
- Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.International journal of molecular sciences · 2022Review
- Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.Cold Spring Harbor molecular case studies · 2020Article
- Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.The application of clinical genetics · 2014Review
- Genetic influences on cystic fibrosis lung disease severity.Frontiers in pharmacology · 2013Article
- The influence of genetics on cystic fibrosis phenotypes.Cold Spring Harbor perspectives in medicine · 2012Article
- Heritability of respiratory infection with Pseudomonas aeruginosa in cystic fibrosis.The Journal of pediatrics · 2012Article
- Omics approaches in cystic fibrosis research: a focus on oxylipin profiling in airway secretions.Annals of the New York Academy of Sciences · 2012Review
- Metabolomic profiling of regulatory lipid mediators in sputum from adult cystic fibrosis patients.Free radical biology & medicine · 2012Article
- PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients.Genes and immunity · 2010Article
- Modifier genes in Mendelian disorders: the example of cystic fibrosis.Annals of the New York Academy of Sciences · 2010Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
Variants in mannose-binding lectin (MBL2; protein MBL) have shown association with different aspects (eg, lung function, infection, survival) of cystic fibrosis (CF) in some studies but not others. Inconsistent results may be due to confounding among disease variables that were not fully accounted for in each study. To account for these relationships, we derived a modeling framework incorporating CFTR genotype, age, Pseudomonas aeruginosa (Pa) infection, and lung function from 788 patients in the US CF Twin and Sibling Study. This framework was then used to identify confounding variables when testing the effect of MBL2 variation on specific CF traits. MBL2 genotypes corresponding to low levels of MBL associated with Pa infection 1.94 years earlier than did MBL2 genotypes corresponding to high levels of MBL (P=0.0034). In addition, Pa-infected patients with MBL2 genotypes corresponding to low levels of MBL underwent conversion to mucoid Pa 2.72 years earlier than did patients with genotypes corresponding to high levels of MBL (P=0.0003). MBL2 was not associated with the time to transition from infection to conversion or with lung function. Thus, use of a modeling framework that identified confounding among disease variables revealed that variation in MBL2 associates with age at infection with Pa and age at conversion to mucoid Pa in CF.
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Registered trials
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