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Sarnelli G, Grosso M, Palumbo I, et al. 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 Gastroenterol J. 2016;5(2):200-207doi: 10.1177/2050640616648870.
Sarnelli, G., Grosso, M., Palumbo, I., Pesce, M., D'Alessandro, A., Zaninotto, G., Annese, V., Petruzzelli, R., Izzo, P., Sepulveres, R., Bruzzese, D., Esposito, G., & Cuomo, R. (2017). 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, 5(2), 200-207. https://doi.org/10.1177/2050640616648870
Sarnelli, Giovanni, et al. "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 vol. 5,2 (2017): 200-207. doi: https://doi.org/10.1177/2050640616648870
Sarnelli G, Grosso M, Palumbo I, Pesce M, D'Alessandro A, Zaninotto G, Annese V, Petruzzelli R, Izzo P, Sepulveres R, Bruzzese D, Esposito G, Cuomo R. 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 Gastroenterol J. 2017 Mar;5(2):200-207. doi: 10.1177/2050640616648870. Epub 2016 Jul 08. PMID: 28344787; PMCID: PMC5349359.
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United European Gastroenterol J. 2017 Mar;5(2):200-207. doi: 10.1177/2050640616648870. Epub 2016 Jul 08.

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

Giovanni Sarnelli, Michela Grosso, Ilaria Palumbo, Marcella Pesce, Alessandra D'Alessandro, Giovanni Zaninotto, Vito Annese, Raffaella Petruzzelli, Paola Izzo, Rossana Sepulveres, Dario Bruzzese, Giuseppe Esposito, Rosario Cuomo

Affiliations

  1. Gastroenterology Unit, Department of Clinical Medicine and Surgery University Federico II, Naples, Italy.
  2. Department of Biochemistry and Medical Biotechnology, University Federico II, Naples, Italy.
  3. Imperial College-St Mary's Hospital, Department of Academic Surgery, London, UK.
  4. Unit of Gastroenterology SOD2, Azienda Ospedaliera Universitaria, Careggi, Firenze, Italy.
  5. Department of Public Health, University Federico II, Naples, Italy.
  6. Department of Physiology and Pharmacology, "La Sapienza" University of Rome, Italy.

PMID: 28344787 PMCID: PMC5349359 DOI: 10.1177/2050640616648870

Abstract

BACKGROUND: Polymorphisms of genes involved in the regulation of the immune response are risk factors for achalasia, but their contribution to disease pathogenesis is unknown. Nitric oxide is involved both in immune function and inhibitory neurotransmission.

OBJECTIVE: The objective of this article is to assess the association and the functional relevance of the CCTTT-inducible nitric oxide synthase (

METHODS: Genomic DNA was isolated from 181 achalasia patients and 220 controls. Genotyping of the (CCTTT)n repeats was performed by PCR and capillary electrophoresis, and data analyzed by considering the frequency of the different alleles. HT29 cells were transfected with iNOS luciferase promoter-reporter plasmids containing different (CCTTT)n.

RESULTS: The alleles' distribution ranged from 7 to 18, with a peak frequency at 12 repeats. Analysis of the allele frequencies revealed that individuals carrying 10 and 13 CCTTT repeats were respectively less and more frequent in achalasia (OR 0.5, 95% CI 0.3-0.5 and OR 1.6, 95% CI 1-2.4, all

CONCLUSION: The functional polymorphism (CCTTT) of

Keywords: (CCTTT)n pentanucleotide; Idiopathic achalasia; genetic polymorphism; iNOS; nitric oxide

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