ArticleAmerican journal of human genetics2021
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- 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
- miR-32533 Reduces Cognitive Impairment and Amyloid-β Overload by Targeting CREB5-Mediated Signaling Pathways in Alzheimer's Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Focus on Achalasia in the Omics Era.International journal of molecular sciences · 2024Review
- Docking Proteins Upregulate IL-1β Expression in Lower Esophageal Sphincter Muscle in Esophageal Achalasia.Journal of clinical medicine · 2024Article
- Imbalance of Innate and Adaptive Immunity in Esophageal Achalasia.Journal of neurogastroenterology and motility · 2023Article
- A single-cell transcriptional landscape of immune cells shows disease-specific changes of T cell and macrophage populations in human achalasia.Nature communications · 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
- Achalasia: The Current Clinical Dilemma and Possible Pathogenesis.Journal of neurogastroenterology and motility · 2023Review
- The molecular pathogenesis of achalasia: a paired lower esophageal sphincter muscle and serum 4D label-free proteomic study.Gastroenterology report · 2023Article
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic achalasia (IA) is a severe motility disorder characterized by neuronal degeneration in the myenteric plexus, but the etiology remains largely unknown. We performed whole-exome sequencing (WES) in 100 IA-affected individuals and 313 non-IA control subjects and validated the results in 230 IA-affected individuals and 1,760 non-IA control subjects. Common missense variants rs1705003 (CUTA, GenBank: NC_000006.11:g.33385953A>G) and rs1126511 (HLA-DPB1, GenBank: NC_000006.11:g.33048466G>T) at 6p21.32 were reproducibly associated with increased risk of IA (rs1126511: OR = 1.83, p = 2.34 × 10
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