ArticleEuropean journal of human genetics : EJHG2016
The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
15 citing papers in PubMed, 25 citations in OpenAlex.
- Characteristics of the Esophageal Microbiota in Patients with Achalasia.Digestive diseases and sciences · 2026Article
- Idiopathic achalasia: unraveling the etiology and pathogenesis of an inflammatory disease.Gastroenterology report · 2026Review
- Association of circulating cytokine levels and tissue-infiltrating myeloid cells with achalasia: results from Mendelian randomization and validation through clinical characteristics and single-cell RNA sequencing.Journal of gastroenterology · 2024Article
- Focus on Achalasia in the Omics Era.International journal of molecular sciences · 2024Review
- A Higher Manometric Esophageal Length to Height Ratio in Achalasia Explains the Lower Prevalence of Hiatal Hernia.Journal of neurogastroenterology and motility · 2023Article
- Imbalance of Innate and Adaptive Immunity in Esophageal Achalasia.Journal of neurogastroenterology and motility · 2023Article
- Achalasia.Nature reviews. Disease primers · 2022Review
- 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
- Heterogeneity of Genetic Admixture Determines SLE Susceptibility in Mexican.Frontiers in genetics · 2021Article
- First genotype-phenotype study reveals HLA-DQβ1 insertion heterogeneity in high-resolution manometry achalasia subtypes.United European gastroenterology journal · 2019Article
- Gelatinase B/Matrix Metalloproteinase-9 as Innate Immune Effector Molecule in Achalasia.Clinical and translational gastroenterology · 2018Article
- An original Eurasian haplotype, HLA-DRB1*14:54-DQB1*05:03, influences the susceptibility to idiopathic achalasia.PloS one · 2018Article
- Dysphagia: Thinking outside the box.World journal of gastroenterology · 2017Review
- New insights into the pathophysiology of achalasia and implications for future treatment.World journal of gastroenterology · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
56 authors at 20 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQβ1 as strong achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQβ1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central Europe, Italy, Spain, Poland and Sweden - the insertion is achalasia associated with Pcombined=1.67 × 10(-35). In addition, we observe that the frequency of the insertion shows a geospatial north-south gradient. The insertion is less common in northern (around 6-7% in patients and 2% in controls from Sweden and Poland) compared with southern Europeans (~16% in patients and 8% in controls from Italy) and shows a stronger attributable risk in the southern European population. Our study provides evidence that the prevalence of achalasia may differ between populations.
Indexed as
Identifiers
What OpenQuestion holds
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.