Association of CDX2 haplogenotype with risk of reflux esophagitis, Barrett´s esophagus, and esophageal adenocarcinoma development
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F23%3A00131174" target="_blank" >RIV/00216224:14310/23:00131174 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Association of CDX2 haplogenotype with risk of reflux esophagitis, Barrett´s esophagus, and esophageal adenocarcinoma development
Original language description
Introduction: Gastroesophageal reflux disease (GERD) can lead to reflux esophagitis (RE), Barrett’s esophagus (BE), and esophageal adenocarcinoma (EAC) development. CDX2 serves as a diagnostic marker for BE and EAC. Objective: Here, we present a genetic association study focused on CDX2 gene variability in Central European patients with GERD. Methods: In 376 endoscopically and histopathologically examined subjects: 279 cases (144 RE, 88 BE, 47 EAC) and 97 controls with nonerosive reflux disease, NERD), genomic DNA was analyzed for 2 polymorphisms in CDX2 (rs3812863, rs4769585). In a subgroup of cases (n=35), CDX2 was immunohistochemically examined in paired pathological and adjacent tissues of esophagus. Results: The distribution of allele frequencies of both CDX2 (rs3812863, rs4769585) polymorphisms differed between cases and controls, the CC genotype (rs4769585) was associated with risk of RE, BE, and EAC development (p≤0.05). The CDX2 AA/CC haplogenotype was found more frequent in cases than in controls (p<0.01). CDX2 protein was found in all BE (n=19) and EAC tissues (n=6), as well as in 3 RE tissues and in 2 esophageal tissue adjacent to lesions (n=35). Conclusion: The CDX2 is a specific tissue marker for BE and EAC diagnosis; variability in the CDX2 gene affects the risk of GERD development.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů