ArticleEuropean journal of human genetics : EJHG2018
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Combinatorial multiomic analysis from a pedigree of Sox10Dom Hirschsprung mice identifies multiple high confidence candidate modifiers of Enteric Nervous System development.PLoS computational biology · 2026Article
- DNER as a novel protein contributes to HSCR pathogenesis: multi-omics combined Mendelian randomization analysis.Pediatric research · 2026Article
- Combinatorial multiomic analysis from a pedigree of Sox10bioRxiv : the preprint server for biology · 2025Article
- Association between gut microbiota and Hirschsprung disease: a bidirectional two-sample Mendelian randomization study.Frontiers in microbiology · 2024Article
- The mediating role of metabolites between gut microbiome and Hirschsprung disease: a bidirectional two-step Mendelian randomization study.Frontiers in pediatrics · 2024Article
- Hirschsprung disease.Nature reviews. Disease primers · 2023Review
- Combined GWAS and single cell transcriptomics uncover the underlying genes and cell types in disorders of gut-brain interaction.medRxiv : the preprint server for health sciences · 2023Article
- Genetics of Hirschsprung's disease.Pediatric surgery international · 2023Review
- The interplay of common genetic variants NRG1 rs2439302 and RET rs2435357 increases the risk of developing Hirschsprung's disease.Frontiers in cell and developmental biology · 2023Article
- A review of the auditory-gut-brain axis.Frontiers in neuroscience · 2023Review
- Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease.Scientific reports · 2022Article
- Review
- Novel CausativeJournal of pediatric genetics · 2022Article
- Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.International journal of molecular sciences · 2021Review
- Robust Huber-LASSO for improved prediction of protein, metabolite and gene expression levels relying on individual genotype data.Briefings in bioinformatics · 2021Article
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- Association of Variants inFrontiers in genetics · 2020Article
- Negative Association Between lncRNAPharmacogenomics and personalized medicine · 2020Article
- Increased miR-214 expression suppresses cell migration and proliferation in Hirschsprung disease by interacting with PLAGL2.Pediatric research · 2019Article
- Article
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20 authors.
Funding
Abstract
Hirschsprung disease (HSCR) is a congenital disorder with a population incidence of ~1/5000 live births, defined by an absence of enteric ganglia along variable lengths of the colon. HSCR genome-wide association studies (GWAS) have found common associated variants at RET, SEMA3, and NRG1, but they still fail to explain all of its heritability. To enhance gene discovery, we performed a GWAS of 170 cases identified from the Danish nationwide pathology registry with 4717 controls, based on 6.2 million variants imputed from the haplotype reference consortium panel. We found a novel low-frequency variant (rs144432435), which, when conditioning on the lead RET single-nucleotide polymorphism (SNP), was of genome-wide significance in the discovery analysis. This conditional association signal was replicated in a Swedish HSCR cohort with discovery plus replication meta-analysis conditional odds ratio of 6.6 (P = 7.7 × 10
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