Korean J Neurogastroenterol Motil.  2008 Dec;14(2):108-114.

The Study of neuronal Nitric Oxide Synthase (nNOS) Gene Polymorphism in Primary Esophageal Motility Disorders

• Lee TH
• Lee JS
• Kim YS
• Lee JE
• Cho EY
• Jung IS
• Ko BM
• Hong SJ
• You CB
• Kim JO
• Cho JY
• Lee MS
• Shim CS
• Kim BS

Abstract

BACKGROUND/AIMS
Primary esophageal motility disorders (PEMDs) are caused by different degrees of inhibitory dysfunction. Nitric oxide (NO) is a major inhibitory neurotransmitter. Some studies have shown that NO production is regulated by NO synthase (NOS) polymorphism. The aim of this study was to assess whether neuronal NOS (nNOS) gene polymorphism is associated with a susceptibility of primary esophageal motility disorders.
METHODS
Total 168 persons (76 men and 92 women; median age 49 years) were enrolled in the study. The subjects were divided into two groups: PEMD group and control group. PEMD group was composed of 25 achalasia, 6 diffuse esophageal spasm, 37 nutcracker esophagus, 3 hypertonic lower esophageal sphincter (LES), 5 hypotonic LES, 17 nonspecific esophageal motility disorder and 36 gastroesophageal reflux disease. The comparisons of genotype and allele frequencies of NOS gene single nucleotide polymorphisms (rs374147, rs2682826, and rs3782218) were made between PEMD and control group.
RESULTS
There were no significant differences in the allele frequencies and genotype among the groups. Haplotypic analysis showed no significant differences among the groups.
CONCLUSIONS
Our results suggest that functional polymorphisms of neuronal NOS (nNOS) gene are not involved in the pathophysiology of primary esophageal motility disorders.

Keyword

Neuronal nitric oxide synthase; Polymorphism; Primary esophageal motility disorder

MeSH Terms

Esophageal Achalasia
Esophageal Motility Disorders
Esophageal Spasm, Diffuse
Esophageal Sphincter, Lower
Gastroesophageal Reflux
Gene Frequency
Genotype
Humans
Male
Neurons
Neurotransmitter Agents
Nitric Oxide
Nitric Oxide Synthase
Nitric Oxide Synthase Type I
Polymorphism, Single Nucleotide
Neurotransmitter Agents
Nitric Oxide
Nitric Oxide Synthase
Nitric Oxide Synthase Type I