ArticlePloS one2018
An original Eurasian haplotype, HLA-DRB1*14:54-DQB1*05:03, influences the susceptibility to idiopathic achalasia.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABANature communications · 2026Article
- HLA Associations Differ by Ethnicity and Aquaporin-4 Antibody Status in Patients With Neuromyelitis Optica Spectrum Disorders.Neurology(R) neuroimmunology & neuroinflammation · 2026Article
- Idiopathic achalasia: unraveling the etiology and pathogenesis of an inflammatory disease.Gastroenterology report · 2026Review
- Focus on Achalasia in the Omics Era.International journal of molecular sciences · 2024Review
- The Role of Viruses in the Pathogenesis of Immune-Mediated Gastro-Intestinal Diseases.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
- Achalasia alters physiological networks depending on sex.Scientific reports · 2024Article
- A Higher Manometric Esophageal Length to Height Ratio in Achalasia Explains the Lower Prevalence of Hiatal Hernia.Journal of neurogastroenterology and motility · 2023Article
- Associations between HLA class II alleles and IgE sensitization to allergens in the Qatar Biobank cohort.The journal of allergy and clinical immunology. Global · 2023Article
- Achalasia: The Current Clinical Dilemma and Possible Pathogenesis.Journal of neurogastroenterology and motility · 2023Review
- Achalasia.Nature reviews. Disease primers · 2022Review
- Human leukocyte antigen (HLA) haplotype matching in unrelated single HLA allele mismatch bone marrow transplantation.Bone marrow transplantation · 2022Article
- Predictive factors associated with the persistence of chest pain in post-laparoscopic myotomy and fundoplication in patients with achalasia.Frontiers in medicine · 2022Article
- Does laparoscopic reoperation yield symptomatic improvements similar to those of primary laparoscopic Heller myotomy in achalasia patients?Surgical endoscopy · 2021Article
- Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.American journal of human genetics · 2021Article
- Cardiovascular dysautonomia in Achalasia Patients: Blood pressure and heart rate variability alterations.PloS one · 2021Article
- Heterogeneity of Genetic Admixture Determines SLE Susceptibility in Mexican.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
22 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic achalasia is a relatively infrequent esophageal motor disorder for which major histocompatibility complex (MHC) genes are well-identified risk factors. However, no information about HLA-achalasia susceptibility in Mexicans has previously been reported. We studied a group of 91 patients diagnosed with achalasia and 234 healthy controls with Mexican admixed ancestry. HLA alleles and conserved extended haplotypes were analyzed using high-resolution HLA typing based on Sanger and next-generation sequencing technologies. Admixture estimates were determined using HLA-B and short tandem repeats. Results were analyzed by non-parametric statistical analysis and Bonferroni correction. P-values < 0.05 were considered significant. Patients with achalasia had 56.7% Native American genes, 24.7% European genes, 16.5% African genes and 2.0% Asian genes, which was comparable with the estimates in the controls. Significant increases in the frequencies of alleles DRB1*14:54 and DQB1*05:03 and the extended haplotypes DRB1*14:54-DQB1*05:03 and DRB1*11:01-DQB1*03:01, even after Bonferroni correction (pC<0.05), were found in the achalasia group compared to those in the controls. Concluding, the HLA class II alleles HLA-DRB1*14:54:01 and DQB1*05:03:01 and the extended haplotype are risk factors for achalasia in mixed-ancestry Mexican individuals. These results also suggest that the HLA-DRB1*14:54-DQB1*05:03 haplotype was introduced by admixture with European and/or Asian populations.
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