Association of specific variants and their combination in the
methylenetetrahydrofolate reductase (MTHFR) gene with reflux
esophagitis

a 2017

Association of specific variants and their combination in the methylenetetrahydrofolate reductase (MTHFR) gene with reflux esophagitis

BARTOŠ, Ladislav, Petra BOŘILOVÁ LINHARTOVÁ, Filip MAREK, Jiří DOLINA, Adam KŘENEK et. al.

Basic information

Original name

Association of specific variants and their combination in the methylenetetrahydrofolate reductase (MTHFR) gene with reflux esophagitis

Authors

BARTOŠ, Ladislav, Petra BOŘILOVÁ LINHARTOVÁ, Filip MAREK, Jiří DOLINA, Adam KŘENEK, Zdeněk KALA and Lydie IZAKOVIČOVÁ HOLLÁ

Edition

XVIII. Setkání biochemiků a molekulárních biologů, Brno, 2017

Other information

Type of outcome

Konferenční abstrakt

Confidentiality degree

není předmětem státního či obchodního tajemství

ISBN

978-80-210-8765-1

Změněno: 20/11/2017 13:16, Mgr. Ladislav Bartoš

Abstract

V originále

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.

Links

GB14-37368G, research and development project

Name: Centrum orofaciálního vývoje a regenerace

Investor: Czech Science Foundation

ROZV/25/LF/2017, interní kód MU

Name: LF - Příspěvek na IP 2017

Investor: Ministry of Education, Youth and Sports of the CR, Internal development projects

Citovat

BARTOŠ, Ladislav, Petra BOŘILOVÁ LINHARTOVÁ, Filip MAREK, Jiří DOLINA, Adam KŘENEK, Zdeněk KALA and Lydie IZAKOVIČOVÁ HOLLÁ. Association of specific variants and their combination in the methylenetetrahydrofolate reductase (MTHFR) gene with reflux esophagitis. In XVIII. Setkání biochemiků a molekulárních biologů, Brno. 2017. ISBN 978-80-210-8765-1.

@proceedings{1396148,
   author = {Bartoš, Ladislav and Bořilová Linhartová, Petra and Marek, Filip and Dolina, Jiří and Křenek, Adam and Kala, Zdeněk and Izakovičová Hollá, Lydie},
   booktitle = {XVIII. Setkání biochemiků a molekulárních biologů, Brno},
   isbn = {978-80-210-8765-1},
   title = {Association of specific variants and their combination in the methylenetetrahydrofolate reductase (MTHFR) gene with reflux esophagitis},
   year = {2017}
}

TY  - CONF
ID  - 1396148
AU  - Bartoš, Ladislav - Bořilová Linhartová, Petra - Marek, Filip - Dolina, Jiří - Křenek, Adam - Kala, Zdeněk - Izakovičová Hollá, Lydie
PY  - 2017
TI  - Association of specific variants and their combination in the methylenetetrahydrofolate reductase (MTHFR) gene with reflux esophagitis
SN  - 9788021087651
N2  - 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.
ER  -

BARTOŠ, Ladislav, Petra BOŘILOVÁ LINHARTOVÁ, Filip MAREK, Jiří DOLINA, Adam KŘENEK, Zdeněk KALA and Lydie IZAKOVIČOVÁ HOLLÁ. Association of specific variants and their combination in the methylenetetrahydrofolate reductase (MTHFR) gene with reflux esophagitis. In \textit{XVIII. Setkání biochemiků a molekulárních biologů, Brno}. 2017. ISBN~978-80-210-8765-1.

Detailed Information on Publication Record