Idiopathic achalasia is a rare disorder of the oesophagus of unknown aetio-pathogenesis characterized by a myenteric inflammation, aperistalsis and insufficient lower oesophageal sphincter relaxation. Vasoactive intestinal peptide (VIP), present in the myenteric plexus, is involved in smooth muscle relaxation and acts as an anti-inflammatory cytokine. The human VIP receptor 1 gene (VIPR1) is highly polymorphic and may play a role in idiopathic achalasia. One hundred and four consecutive patients and 300 random controls from the same geographic area were typed for five SNPs mapping in the VIPR1 gene. Patients with idiopathic achalasia show a significant difference in allele, genotype and phenotype distribution of SNP rs437876 mapping in intron 4. This association, however, was almost entirely due to the group of patients with late disease onset (P = 0.0005). These results strongly suggest that idiopathic achalasia is a heterogeneous disease with a different aetiology in cases with early or late disease onset.

Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene / Paladini, Fabiana; Cocco, Elisa; I., Cascino; Belfiore, Francesca; Badiali, Danilo; L., Piretta; F., Alghisi; Anzini, Fiorella; Fiorillo, Maria Teresa; Corazziari, Enrico Stefano; Sorrentino, Rosa. - In: NEUROGASTROENTEROLOGY AND MOTILITY. - ISSN 1350-1925. - 21:6(2009), pp. 597-602. [10.1111/j.1365-2982.2009.01284.x]

Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene

PALADINI, Fabiana;COCCO, ELISA;BELFIORE, FRANCESCA;BADIALI, Danilo;ANZINI, Fiorella;FIORILLO, Maria Teresa;CORAZZIARI, Enrico Stefano;SORRENTINO, Rosa
2009

Abstract

Idiopathic achalasia is a rare disorder of the oesophagus of unknown aetio-pathogenesis characterized by a myenteric inflammation, aperistalsis and insufficient lower oesophageal sphincter relaxation. Vasoactive intestinal peptide (VIP), present in the myenteric plexus, is involved in smooth muscle relaxation and acts as an anti-inflammatory cytokine. The human VIP receptor 1 gene (VIPR1) is highly polymorphic and may play a role in idiopathic achalasia. One hundred and four consecutive patients and 300 random controls from the same geographic area were typed for five SNPs mapping in the VIPR1 gene. Patients with idiopathic achalasia show a significant difference in allele, genotype and phenotype distribution of SNP rs437876 mapping in intron 4. This association, however, was almost entirely due to the group of patients with late disease onset (P = 0.0005). These results strongly suggest that idiopathic achalasia is a heterogeneous disease with a different aetiology in cases with early or late disease onset.
2009
genetic association; idiopathic achalasia; idiopatic achalasia; receptor-genetic association; vasoactive intestinal peptide
01 Pubblicazione su rivista::01a Articolo in rivista
Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene / Paladini, Fabiana; Cocco, Elisa; I., Cascino; Belfiore, Francesca; Badiali, Danilo; L., Piretta; F., Alghisi; Anzini, Fiorella; Fiorillo, Maria Teresa; Corazziari, Enrico Stefano; Sorrentino, Rosa. - In: NEUROGASTROENTEROLOGY AND MOTILITY. - ISSN 1350-1925. - 21:6(2009), pp. 597-602. [10.1111/j.1365-2982.2009.01284.x]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/360806
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