ArticleJournal of neurogastroenterology and motility2015
Achalasia Is Associated With eNOS4a4a, iNOS22GA, and nNOS29TT Genotypes: A Case-control Study.
Article in Journal of neurogastroenterology and motility, 2015. 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.
- 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
- Focus on Achalasia in the Omics Era.International journal of molecular sciences · 2024Review
- Achalasia: The Current Clinical Dilemma and Possible Pathogenesis.Journal of neurogastroenterology and motility · 2023Review
- The rs2682826 Polymorphism of theLife (Basel, Switzerland) · 2023Article
- Review
- Comparison of Changes in the Interstitial Cells of Cajal and Neuronal Nitric Oxide Synthase-positive Neuronal Cells With Aging Between the Ascending and Descending Colon of F344 Rats.Journal of neurogastroenterology and motility · 2017Article
- Current status of achalasia management: a review on diagnosis and treatment.Journal of gastroenterology · 2017Review
- Allele-specific transcriptional activity of the variable number of tandem repeats of the inducible nitric oxide synthase gene is associated with idiopathic achalasia.United European gastroenterology journal · 2017Article
- New insights into the pathophysiology of achalasia and implications for future treatment.World journal of gastroenterology · 2016Review
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4 authors.
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Abstract
BACKGROUND/
aimsAchalasia is known to result from degeneration of inhibitory neurons, which are mostly nitrinergic. Characteristic features of achalasia include incomplete lower esophageal sphincter (LES) relaxation and esophageal aperistalsis. Nitric oxide (NO), pro-duced by NO synthase (NOS), plays an important role in peristalsis and LES relaxation. Therefore, we evaluated genetic poly-morphisms of NOS gene isoforms (endothelial NOS [eNOS], inducible NOS [iNOS], and neuronal NOS [nNOS]) in patients with achalasia and healthy subjects (HS).
methodsConsecutive patients with achalasia (diagnosed using esophageal manometry) and HS were genotyped for 27-base pair (bp) eNOS variable number of tandem repeats (VNTR), iNOS22G/A (rs1060826), nNOS C/T (rs2682826) polymorphisms by polymer-ase chain reaction (PCR) and PCR-restriction fragment length polymorphism (RFLP), respectively.
resultsAmong 183 patients (118 [64.5%] male, age 39.5 ± 13.0 years) with achalasia and 366 HS (254 [69.4%] male, age 40.8 ± 11.0 years), eNOS4a4a genotype of 27-bp VNTR was more common among achalasia than HS (20 [10.9%] vs 13 [3.6%]; P < 0.001; OR, 3.72; 95% CI, 1.8-7.7). Patients with achalasia had iNOS22GA genotypes more often than HS (95 [51.9%] vs 93 [25.4%]; P < 0.001; OR, 3.0; 95% CI, 2.1-4.4). Frequency of genotypes GA + AA was higher in patients than HS (97 [53%] vs 107 [29.2%]; P < 0.001; OR, 2.7; 95% CI, 1.8-3.9). Also, nNOS29TT variant genotype in rs2682826 was more com-mon among patients compared to HS (14 [7.7%] vs 6 [1.6%]; P < 0.001; OR, 5.91; 95% CI, 2.2-15.8).
conclusionsAchalasia is associated with eNOS4a4a, iNOS22GA, and nNOS29TT genotypes. This may suggest that polymorphisms of eNOS, iNOS, and nNOS genes are risk factors for achalasia.
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