Publication details
Association of specific variants and their combination in the methylenetetrahydrofolate reductase (MTHFR) gene with reflux esophagitis
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| Year of publication | 2017 |
| Type | Conference abstract |
| Citation | |
| Description | Background: Gastroesophageal reflux disease (GERD) includes non-erosive reflux disease (NERD), reflux esophagitis (RE), and Barrett’s esophagus (BE). Susceptibility to inflammatory and/or precancerous conditions may be modified by functional polymorphisms in genes linked with the folate metabolic pathway, such as methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and methionine synthase reductase (MTRR). The aim of our study was to analyze four single nucleotide polymorphisms (SNPs) in the genes for these enzymes in Czech patients with GERD. Subjects and Methods: This case-control study included 386 subjects: 290 patients with GERD (98 NERD, 139 RE, and 53 BE) and 96 healthy controls. Diagnosis was determined based on clinical symptoms (heartburn, regurgitation), esophagogastroduodenoscopy, manometry of esophagus, 24h pH-metry and histological examination. MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), MTR A2756G (rs1805087) and MTRR A66G (rs1801394) SNPs were determined by qPCR with TaqMan fluorescent assays. Results: There were no significant differences in the allele or genotype frequencies in both MTR and MTRR SNPs. However, MTHFR 677 T allele was found to be a risk factor for RE development (P<0.05) and MTHFR 1298 AA genotype was associated with RE and BE and also with GERD as a whole (53.2% in RE/52.8% in BE/50.0% in GERD patients vs. 34.4% in controls; P<0.01/P<0.05/P<0.01, respectively). Furthermore, we identified MTHFR 677CC/1298AC haplogenotype as a protective factor for RE development (P<0.01). Conclusions: It seems that patients with common genotypes in MTHFR, and thus normal ability to utilize folates, are protected against inflammatory changes in esophageal mucosa as a result of reflux disease. We suggest that blood levels of homocysteine/folate should be monitored in patients with “risk” variants (with slow conversion of folate to methylfolate) and if necessary drug with active form of folate should be administered. Acknowledgements: The study was supported by funds provided by the Faculty of Medicine MU to junior researcher Petra Borilova Linhartova and grant GACR GB14-37368G. |
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