Association Between Achalasia and Nitric Oxide Synthase Gene Polymorphisms

Mearin, Fermı́n; García-González, María Asunción; Strunk, Mark; Zárate, Natalia; Malagelada, Ju ́n-Ramón; Lanas, Ángel

doi:10.1111/j.1572-0241.2006.00762.x

Cited by 32 publications

(34 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In a study from Spain, a trend toward a higher prevalence of genotypes iNOS22AA and eNOS4a4a was found among patients with achalasia. 11 However, the difference was not statistically significant. In another study from Spain, the frequency of iNOS22AA genotypes was lower among patients with achalasia than controls.…”

Section: Introductionmentioning

confidence: 53%

“…Similarly, the sample size for nNOS gene C/T polymorphism was calculated according to the above parameters and variant "T" allele frequency of 26% among control population as reported from Spain. 11 The sample size was estimated to be 171 patients and 342 controls. One hundred eighty-three patients with achalasia were included during a 5-year period (2008 to 2013).…”

Section: Study Participantsmentioning

confidence: 99%

“…9,10 NO is synthesized by NO synthase (NOS), which has 3 isoforms, namely, endothelial NOS (eNOS), inducible NOS (iNOS), and neuronal NOS (nNOS). 11,12 The genes encoding for these isoforms are located in the human chromosomes 7q36, 17q11.2-q12, and, 12q24.2, respectively, which have several polymorphisms. 11,[13][14][15][16][17][18][19] Polymorphisms in eNOS, iNOS, and nNOS genes result in occurrence of either "high" or "low" producer alleles.…”

Section: Introductionmentioning

confidence: 99%

“…11,12 The genes encoding for these isoforms are located in the human chromosomes 7q36, 17q11.2-q12, and, 12q24.2, respectively, which have several polymorphisms. 11,[13][14][15][16][17][18][19] Polymorphisms in eNOS, iNOS, and nNOS genes result in occurrence of either "high" or "low" producer alleles. Subjects homozygous for the high-producer alleles synthesize the highest amount of NO, those homozygous for the low-producer alleles the least, while heterozygotes produce an intermediate amount.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Achalasia Is Associated With eNOS4a4a, iNOS22GA, and nNOS29TT Genotypes: A Case-control Study

Singh

Ghoshal

Misra

et al. 2015

J Neurogastroenterol Motil

View full text Add to dashboard Cite

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), produced by NO synthase (NOS), plays an important role in peristalsis and LES relaxation. Therefore, we evaluated genetic polymorphisms 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 polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (RFLP), respectively. Results Among 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.

show abstract

Section: Introductionmentioning

confidence: 53%

Section: Study Participantsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Achalasia Is Associated With eNOS4a4a, iNOS22GA, and nNOS29TT Genotypes: A Case-control Study

Singh

Ghoshal

Misra

et al. 2015

J Neurogastroenterol Motil

View full text Add to dashboard Cite

show abstract

“…Polymorphisms of the iNOS gene have been studied in achalasia in the case of a Spanish population [24], in the esophageal reflux, Barrett esophagus, the esophageal adenocarcinoma, at a Caucasian population [25], as well as in the prostate cancer at the non-Spanish Caucasians and Afro Americans [26]. As a conclusion of all these studies, there are no significant associations with these diseases.…”

Section: Discussionmentioning

confidence: 99%

The association between chronic pancreatitis and the iNOS-2087A>G polymorphism

Pădureanu

Siloşi

Forţofoiu

et al. 2017

Romanian Journal of Internal Medicine

View full text Add to dashboard Cite

Introduction. Chronic pancreatitis is morphologically characterized by ductal dysplasia, breeding grounds for the proliferation of the ductal cells, the degenerative changes in pancreatic acinar cells and fibrosis, and it is defined on the basis of the clinical, morphological and functional criteria.Aim. The aim of our study is to examine the existence of a possible correlation between the iNOS-2087A>G polymorphism and chronic pancreatitis by means of the genetic analysis.Material and method. We have conducted the study at the Gastroenterology Clinic and the Research Center of Gastroenterology and Hepatology of the University of Medicine and Pharmacy, Craiova, between March 2015 – September 2016. The study had a prospective character. Both for the 58 patients diagnosed with chronic pancreatitis and for the 132 patients in the witness group, the biological material was represented by blood, (around 2.5 – 5 milliliters of venous blood) let on EDTA and kept at 4°C up to the separation of the DNA molecule. All the patients were genotyped for the iNOS – 2087A>G polymorphism, by means of the Real Time PCR technique with TaqMan probes.Results. Analysing the prevalence of the iNOS genotypes within the study group and witness group, we have noticed that, statistically speaking, there are no significant differences between the two groups.Conclusion. As a conclusion, in the study lot we can sustain that the risk of developing chronic pancreatitis is not increased by the presence of the iNOS-2087A>G polymorphism.

show abstract

Nitric Oxide Synthase and Superoxide Dismutase Gene Polymorphisms in Behçet Disease

Nakao

Isashiki²,

Sonoda³

et al. 2007

Arch Ophthalmol

View full text Add to dashboard Cite

Objective: To investigate the association of endothelial nitric oxide synthase (NOS), inducible NOS, manganese superoxide dismutase (SOD), and extracellular SOD gene polymorphisms with susceptibility to Behçet disease (BD) in Japan. Methods: Seventy-eight consecutive Japanese patients with BD and 107 healthy control subjects were genotyped by polymerase chain reaction or polymerase chain reaction-restriction fragment length polymorphism methods for endothelial NOS polymorphisms in intron 4, exon 7, and promoter region; inducible NOS polymorphisms in exon 16 and promoter region; manganese SOD Ala16Val polymorphism; and extracellular SOD Arg213Gly polymorphism. HLA-B*51 alleles, which have been found to be associated with BD, were also determined. Results: The frequencies of manganese SOD Val16 increased significantly in patients with BD. The manganese SOD-Val/Val genotype and HLA-B*5101 had a synergistic role in controlling susceptibility to BD. There was no significant difference in the frequencies of endothelial NOS, inducible NOS, and extracellular SOD gene polymorphisms between patients with BD and control subjects. Conclusion: The manganese SOD Val16 allele is associ-atedwiththedevelopmentofBDinJapan.ExtracellularSOD, endothelial NOS, and inducible NOS gene polymorphisms do not constitute a risk factor for developing BD in Japan. Clinical Relevance: The manganese SOD gene polymorphism seems to contribute to BD.

show abstract

Association Between Achalasia and Nitric Oxide Synthase Gene Polymorphisms

Cited by 32 publications

References 40 publications

Achalasia Is Associated With eNOS4a4a, iNOS22GA, and nNOS29TT Genotypes: A Case-control Study

Achalasia Is Associated With eNOS4a4a, iNOS22GA, and nNOS29TT Genotypes: A Case-control Study

The association between chronic pancreatitis and the iNOS-2087A>G polymorphism

Nitric Oxide Synthase and Superoxide Dismutase Gene Polymorphisms in Behçet Disease

Contact Info

Product

Resources

About