Association of CDX2 haplogenotype with risk of reflux esophagitis, Barrett´s esophagus, and esophageal adenocarcinoma development
| Authors | |
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| Year of publication | 2023 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| 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. |
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