Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our objective in this study was to determine whether mutations in the gene for the 5-hydroxytryptamine receptor 2A (HTR2A) cause the autosomal dominant form of severe pediatric gastroesophageal reflux (GER), which we had previously mapped to a 21-cM region at chromosome 13q14. Direct sequencing of the HTR2A gene was carried out on DNA from affected and unaffected members of families with severe pediatric GER displaying genetic linkage to the HTR2A locus. In addition, we performed high-resolution linkage mapping within the GER gene region using additional polymorphic markers closely linked to HTR2A. Several previously reported polymorphisms in the HTR2A gene were identified in three families affected with GER. In addition, we identified a novel polymorphism at nucleotide -1273 in the HTR2A promoter. No mutant allele cosegregated exclusively with the GER phenotype in any family. Linkage analysis using additional polymorphic markers narrowed the region of the GER gene to a 9 cM interval between markers D13S263 and CAGR1, formally excluding HTR2A as a candidate gene. In conclusion, sequence analysis of HTR2A and linkage analysis argue against mutations in HTR2A being a cause of severe pediatric GER.
 ...
PMID:Refined localization of a gene for pediatric gastroesophageal reflux makes HTR2A an unlikely candidate gene. 1114 Sep 52

Since 2005, every annual meeting of the Japanese Gastroenterological Association has included a core symposium for functional gastrointestinal disorders. At the 6th annual meeting, the core symposium was 'Pathophysiology and New Treatment'. At the 7th annual meeting, the core symposium was 'Pathophysiology and Motility'. This review summarizes the papers presented at these meetings. At the 6th meeting, we recognized that Japanese researchers successfully produced and developed many agents that are safe and effective for the treatment of functional gastrointestinal disorders, such as 5-hydroxytryptamine receptor-associated compounds, lubiprostone, Japanese herbal medicine, and other drugs. Data were validated from a clinical as well as an experimental viewpoint. Findings included the effects of sumatriptan and nizatidine, acylated or des-acylated ghrelin, T-cell-activating anti-CD3 antibody, and transient receptor potential vanilloid-1. At the 7th meeting, not only functional dyspepsia and irritable bowel syndrome (IBS), but also non-erosive esophageal reflux disease (NERD) and chronic intestinal pseudo-obstruction were actively discussed from a motility viewpoint, including papers about sham feeding and gastric motility, genetic polymorphism and motility, the role of transient receptor potential A1 on gastric accommodation, esophageal motility and NERD, diagnosis and treatment of chronic intestinal pseudo-obstruction, immunological basis of motility in IBS, developing non-invasive colonic function test, and fecal distribution in IBS patients.
 ...
PMID:Management and pathophysiology of functional gastrointestinal disorders. 2226 84