SynthesisHuman molecular genetics2016
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Synthesis in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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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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Who cites it
30 citing papers in PubMed, 43 citations in OpenAlex.
- Neurotrophin-3 rs1805149A>G variant in Hirschsprung disease: An investigative study.World journal of gastrointestinal surgery · 2026Trial
- 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
- Combinatorial multiomic analysis from a pedigree of Sox10bioRxiv : the preprint server for biology · 2025Article
- Neuregulin 1 (NRG1) and its receptors in the enteric nervous system and other parts of the gastrointestinal wall.Histology and histopathology · 2024Review
- Developing and evaluating pediatric phecodes (Peds-Phecodes) for high-throughput phenotyping using electronic health records.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Similarity and diversity of genetic architecture for complex traits between East Asian and European populations.BMC genomics · 2023Article
- 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
- Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease.Scientific reports · 2022Article
- Novel CausativeJournal of pediatric genetics · 2022Article
- Association of rs2435357 and rs2506030 polymorphisms inFrontiers in pediatrics · 2022Review
- The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.International journal of molecular sciences · 2021Article
- Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.International journal of molecular sciences · 2021Review
- Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.PLoS genetics · 2021Article
- RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction.Human genetics · 2021Article
- On the Transformation of Genetic Effect Size from Logit to Liability Scale.Behavior genetics · 2021Article
- TheInternational journal of molecular sciences · 2021Article
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease.Genome research · 2020Article
Corrections and comments
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Authors and funding
32 authors at 17 institutions in 8 countries.
Funding
Abstract
Hirschsprung disease (HSCR) is the most common cause of neonatal intestinal obstruction. It is characterized by the absence of ganglia in the nerve plexuses of the lower gastrointestinal tract. So far, three common disease-susceptibility variants at the RET, SEMA3 and NRG1 loci have been detected through genome-wide association studies (GWAS) in Europeans and Asians to understand its genetic etiologies. Here we present a trans-ethnic meta-analysis of 507 HSCR cases and 1191 controls, combining all published GWAS results on HSCR to fine-map these loci and narrow down the putatively causal variants to 99% credible sets. We also demonstrate that the effects of RET and NRG1 are universal across European and Asian ancestries. In contrast, we detected a European-specific association of a low-frequency variant, rs80227144, in SEMA3 [odds ratio (OR) = 5.2, P = 4.7 × 10-10]. Conditional analyses on the lead SNPs revealed a secondary association signal, corresponding to an Asian-specific, low-frequency missense variant encoding RET p.Asp489Asn (rs9282834, conditional OR = 20.3, conditional P = 4.1 × 10-14). When in trans with the RET intron 1 enhancer risk allele, rs9282834 increases the risk of HSCR from 1.1 to 26.7. Overall, our study provides further insights into the genetic architecture of HSCR and has profound implications for future study designs.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.