ReviewHuman genetics2010
Achalasia: will genetic studies provide insights?
Review in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
47 citing papers in PubMed.
- Aflatoxin influences achalasia symptomatology.Molecular medicine reports · 2020Trial
- RareInternational journal of molecular sciences · 2026Article
- A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABANature communications · 2026Article
- Idiopathic achalasia: unraveling the etiology and pathogenesis of an inflammatory disease.Gastroenterology report · 2026Review
- First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.Gut · 2025Article
- Response Rate to Treatment of Achalasia Patients With Thyroid Disorders Versus Euthyroid Patients: A Cross-Sectional Study in Iran.JGH open : an open access journal of gastroenterology and hepatology · 2025Article
- Clinical efficacy of peroral endoscopic myotomy treatment performed in patients diagnosed with achalasia.Northern clinics of Istanbul · 2025Article
- State-of-the-Art Surgery in Achalasia.Visceral medicine · 2024Review
- Focus on Achalasia in the Omics Era.International journal of molecular sciences · 2024Review
- Burn Pits: A Possible Trigger for Achalasia.Cureus · 2023Article
- Article
- Prevalence of neurodegenerative/demyelinating disorders in patients with achalasia.Translational neuroscience · 2022Article
- Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.American journal of human genetics · 2021Article
- Peroral endoscopic shorter versus longer myotomy for the treatment of achalasia: a comparative retrospective study.Esophagus : official journal of the Japan Esophageal Society · 2020Article
- Oral Health-Related Quality of Life in People with Achalasia.Medicina (Kaunas, Lithuania) · 2020Article
- Epidemiological analysis of achalasia in Japan using a large-scale claims database.Journal of gastroenterology · 2019Article
- First genotype-phenotype study reveals HLA-DQβ1 insertion heterogeneity in high-resolution manometry achalasia subtypes.United European gastroenterology journal · 2019Article
- Expanding the clinical phenotype of IARS2-related mitochondrial disease.BMC medical genetics · 2018Article
- Is There Any Evidence for a Viral Cause in Achalasia?Middle East journal of digestive diseases · 2018Article
- Before and after Esophageal Surgery: Which Information Is Needed from the Functional Laboratory?Visceral medicine · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia and its association with well-defined genetic syndromes suggest the involvement of genetic factors. Mutant mouse models display gastrointestinal disturbances that are similar to those observed in achalasia patients. The candidate gene approach has revealed some promising results; however, it has not established conclusive links to specific genes so far. The aim of this review was to summarize current knowledge of the genetics of achalasia. We also discuss the extent to which our understanding of achalasia is likely to be enhanced through future molecular genetic research.
Indexed as
Identifiers
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Registered trials
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.