RGD Reference Report - The importance of homozygous polymorphisms of methylenetetrahydrofolate reductase gene in romanian patients with idiopathic venous thromboembolism. - Rat Genome Database

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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.
RGD ID: 10449399
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.



Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information