作者
Fabiana Paladini, Elisa Cocco, I Cascino, Francesca Belfiore, Danilo Badiali, L Piretta, F Alghisi, Fiorella Anzini, Maria Teresa Fiorillo, E Corazziari, Rosa Sorrentino
发表日期
2009/6
期刊
Neurogastroenterology & Motility
卷号
21
期号
6
页码范围
597-602
出版商
Blackwell Publishing Ltd
简介
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 …
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