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MTHFR 677C>T polymorphism in patients with COPD

Dimo Dimov, Georgi Golemanov, Tanya Tacheva, Vanya Ilieva, Gospodinka Prakova, Maya Gulubova, Regina Komsa-Penkova, Tatyana Vlaykova
European Respiratory Journal 2015 46: PA4892; DOI: 10.1183/13993003.congress-2015.PA4892
Dimo Dimov
1Internal Medicine, Medical Faculty, Trakia University, Stara Zagora, Bulgaria
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Georgi Golemanov
2Chemistry and Biochemistry, Medical University, Pleven, Bulgaria
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Tanya Tacheva
3Chemistry and Biochemistry, Medical Faculty, Trakia University, Stara Zagora, Bulgaria
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Vanya Ilieva
1Internal Medicine, Medical Faculty, Trakia University, Stara Zagora, Bulgaria
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Gospodinka Prakova
1Internal Medicine, Medical Faculty, Trakia University, Stara Zagora, Bulgaria
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Maya Gulubova
4General and Clinical Pathology, Medical Faculty, Trakia University, Stara Zagora, Bulgaria
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Regina Komsa-Penkova
2Chemistry and Biochemistry, Medical University, Pleven, Bulgaria
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Tatyana Vlaykova
3Chemistry and Biochemistry, Medical Faculty, Trakia University, Stara Zagora, Bulgaria
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Abstract

COPD is a preventable and treatable disease associated with an enhanced chronic local and systemic inflammatory response. Methylenetetrahydrofolate reductase (MTHFR) is a central regulatory enzyme in folate and methionine metabolism, which on turn play crucial role in DNA synthesis and methylation. MTHFR catalyzes the biologically irreversible reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which supplies with the methyl group the process of remethylation of homocysteine to methionine. MTHFR gene is polymorphic gene as at least two SNPs (677 C >T and 1298 A>C) have been shown to result in decreased enzyme activity, which further may lead to increased tissue and plasma homocysteine levels and DNA hypomethylation. Recent studies suggested that COPD is associated with hyperhomocysteinemia and hypomethylation of a large number of CpG sites. So far no study has been reported to explore the role of MTHFR 677 C>T SNP in COPD. In this respect determined the MTHFR 677C>T genotype frequency in 142 patients with COPD and in 94 control individuals and aimed to evaluate its possible role for development of this disease.

We did not find statistically significant difference between genotype and allele frequencies of COPD patients and controls (p=0.815, p=0.927). The polymorphism was not associated with the stage of the disease or with spirometric indexes. However, the carriers of TT genotype developed COPD earlier (57.99±1.47 years) than the heterozygous (62.70±8.47 years, p=0.066) and especially than carriers of CC genotype (63.20±9.80 years, p=0.045).

These results suggest that MTHFR 677C>T polymorphism is not a risk factor for COP, but may contribute to early onset of the disease.

  • COPD - mechanism
  • Biomarkers
  • Genetics
  • Copyright ©ERS 2015
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MTHFR 677C>T polymorphism in patients with COPD
Dimo Dimov, Georgi Golemanov, Tanya Tacheva, Vanya Ilieva, Gospodinka Prakova, Maya Gulubova, Regina Komsa-Penkova, Tatyana Vlaykova
European Respiratory Journal Sep 2015, 46 (suppl 59) PA4892; DOI: 10.1183/13993003.congress-2015.PA4892

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MTHFR 677C>T polymorphism in patients with COPD
Dimo Dimov, Georgi Golemanov, Tanya Tacheva, Vanya Ilieva, Gospodinka Prakova, Maya Gulubova, Regina Komsa-Penkova, Tatyana Vlaykova
European Respiratory Journal Sep 2015, 46 (suppl 59) PA4892; DOI: 10.1183/13993003.congress-2015.PA4892
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