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The importance of homozygous polymorphisms of methylenetetrahydrofolate reductase gene in romanian patients with idiopathic venous thromboembolism.

Authors: Hotoleanu, C  Trifa, A  Popp, R  Fodor, D 
Citation: Hotoleanu C, etal., Balkan Med J. 2013 Jun;30(2):197-203. doi: 10.5152/balkanmedj.2013.7159. Epub 2013 Jun 1.
Pubmed: (View Article at PubMed) PMID:25207100
DOI: Full-text: DOI:10.5152/balkanmedj.2013.7159

BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have recently raised the interest as a possible thrombophilic factors. AIMS: We aimed to assess the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic venous thromboembolism (VTE) in a Romanian population and the associated risk of VTE. STUDY DESIGN: We performed a case-control transversal study including 90 patients diagnosed with VTE and 75 sex- and age-matched controls. METHODS: MTHFR C677T and A1298C polymorphisms were detected using PCR-RFLP method. RESULTS: The homozygous MTHFR 677TT genotype, present in 18.8% of patients with VTE versus 6.6% of controls, was significantly associated with VTE (p= 0.021, OR= 3.26, 95%CI (1.141-9.313)). The heterozygous MTHFR A1298C genotype, presenting the highest prevalence in the VTE group (34.4%) as well as in controls (37.3%), was not associated with VTE (p=0.7). No associations were found for heterozygous MTHFR C677T (with a frequency of 32.2% in VTE and 37.3% in controls, p=0.492), respective homozygous MTHFR A1298C genotype (with a frequency of 1.1% in VTE and 2.6% in controls, p=0.456). CONCLUSION: Among MTHFR polymorphisms, only homozygosity for MTHFR 677TT may be considered a risk factor for VTE; the MTHFR A1298C polymorphism is not significantly associated with an increased risk of VTE.


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CRRD Object Information
CRRD ID: 10449399
Created: 2015-12-28
Species: All species
Last Modified: 2015-12-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.