ArticleGastroenterology2006
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.
Article in Gastroenterology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed, 156 citations in OpenAlex.
- Impact of Genetics on Endocrine Manifestations of Cystic Fibrosis.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026Review
- Amelioration of airway and GI disease in G551D-CF ferrets by AAV1 and AAV6.Gene therapy · 2024Article
- Diagnosis and Management of Simple and Complicated Meconium Ileus in Cystic Fibrosis, a Systematic Review.Diagnostics (Basel, Switzerland) · 2024Review
- Article
- Pancreatic enzymes digest obstructive meconium from cystic fibrosis pig intestines.Frontiers in pediatrics · 2024Article
- Update on Cystic Fibrosis in Pediatric Patients.Current gastroenterology reports · 2023Review
- Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.American journal of human genetics · 2022Article
- The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.International journal of pediatrics & adolescent medicine · 2022Article
- Contrast Enema: Solving Diagnostic Dilemmas in Neonates With Lower Intestinal Obstruction.Cureus · 2022Article
- Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.Journal of clinical medicine · 2021Review
- Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children.Turkish thoracic journal · 2021Article
- Ultrasound findings of pubertal development in girls with cystic fibrosis and their association with clinical outcomes and Tanner staging.Archives of endocrinology and metabolism · 2021Article
- SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2021Observational
- [Abdominal manifestations in cystic fibrosis : Clinical review].Der Radiologe · 2020Review
- Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits.The Journal of clinical endocrinology and metabolism · 2020Article
- Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.The Journal of clinical investigation · 2020Article
- Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.PLoS genetics · 2019Article
- Clinical expression of cystic fibrosis in a large cohort of Italian siblings.BMC pulmonary medicine · 2018Article
- Article
- Kcnn4 is a modifier gene of intestinal cystic fibrosis preventing lethality in the Cftr-F508del mouse.Scientific reports · 2018Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
Abstract
BACKGROUND &
aimsNeonatal intestinal obstruction (meconium ileus [MI]) occurs in 15% of patients with cystic fibrosis (CF). Our aim was to determine the relative contribution of genetic and nongenetic modifiers to the development of this major complication of CF.
methodsA total of 65 monozygous twin pairs, 23 dizygous twin/triplet sets, and 349 sets of siblings with CF were analyzed for MI status, significant covariates, and genome-wide linkage.
resultsSpecific mutations in the CF transmembrane conductance regulator (CFTR), the gene responsible for CF, correlated with MI, indicating a role for CFTR genotype. Monozygous twins showed substantially greater concordance for MI than dizygous twins and siblings (P = 1 x 10(-5)), showing that modifier genes independent of CFTR contribute substantially to this trait. Regression analysis revealed that MI was correlated with distal intestinal obstruction syndrome (P = 8 x 10(-4)). Unlike MI, concordance analysis indicated that the risk for development of distal intestinal obstruction syndrome in CF patients is caused primarily by nongenetic factors. Regions of suggestive linkage (logarithm of the odds of linkage >2.0) for modifier genes that cause MI (chromosomes 4q35.1, 8p23.1, and 11q25) or protect from MI (chromosomes 20p11.22 and 21q22.3) were identified by genome-wide analyses. These analyses did not support the existence of a major modifier gene on chromosome 19 in a region previously linked to MI.
conclusionsThe CFTR gene along with 2 or more modifier genes are the major determinants of intestinal obstruction in newborn CF patients, whereas intestinal obstruction in older CF patients is caused primarily by nongenetic factors.
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Registered trials
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