ArticleBMC medical genetics2011
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses 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.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- RET gene is a major risk factor for Hirschsprung's disease: a meta-analysis.Pediatric surgery international · 2015Pooled it
- RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis.PloS one · 2014Pooled it
- Systematic structure-based analysis of RET variants in MEN2A and Hirschsprung's disease, and the paradoxical co-occurrence of both conditions.Disease models & mechanisms · 2026Article
- Association of rs2435357 and rs2506030 polymorphisms inFrontiers in pediatrics · 2022Review
- TheAIMS neuroscience · 2022Review
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population.Journal of cellular and molecular medicine · 2018Article
- RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.PloS one · 2014Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- Enteric nervous system development: migration, differentiation, and disease.American journal of physiology. Gastrointestinal and liver physiology · 2013Review
- RET and NRG1 interplay in Hirschsprung disease.Human genetics · 2013Article
- Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.Journal of human genetics · 2012Article
- Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of both RET rare variants (RVs) and common variants (CVs) in the context of the disease.
methodsRET mutational screening was performed by dHPLC and direct sequencing for the identification of RVs. In addition Taqman technology was applied for the genotyping of 3 RET CVs previously associated to HSCR, including a variant lying in an enhancer domain within RET intron 1 (rs2435357). Statistical analyses were performed using the SPSS v.17.0 to analyze the distribution of the variants.
resultsOur results confirm the strongest association to HSCR for the "enhancer" variant, and demonstrate a significantly higher impact of it in male versus female patients. Integration of the RET RVs and CVs analysis showed that in 91.66% of cases with both kinds of mutational events, the enhancer allele is in trans with the allele bearing the RET RV.
conclusionsA gender effect exists on both the transmission and distribution of rare coding and common HSCR causing mutations. In addition, these RET CVs and RVs seem to act in a synergistic way leading to HSCR phenotype.
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