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KMID : 0812020080140020108
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Korean Journal of Neurogastroenterology and Motility
2008 Volume.14 No. 2 p.108 ~ p.114
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The Study of neuronal Nitric Oxide Synthase (nNOS) Gene Polymorphism in Primary Esophageal Motility Disorders
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Lee Tae-Hee
Lee Joon-Seong
Kim Yun-Soo
Lee Jong-Eun
Cho Eun-Young
Jung In-Seop
Ko Bong-Min
Hong Su-Jin
You Chang-Beom
Kim Jin-Oh
Cho Joo-Young
Lee Moon-Sung
Shim Chan-Sup
Kim Boo-Sung
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Abstract
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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.
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KEYWORD
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Neuronal nitric oxide synthase, Polymorphism, Primary esophageal motility disorder
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