Gene polymorphisms associated with diminished activity of 5,10-methylenetetrahydrofolate reductase do not explain the clinical manifestations of cobalamin deficiency
نویسندگان
چکیده
منابع مشابه
The End of a Long Debate: Methylenetetrahydrofolate Reductase Gene Polymorphisms do not Increase Thrombosis Risk.
We read the article by Ozturk et al. [1], in which they reported the frequency of some thrombophilic mutations in eastern Turkey. The authors have defined single nucleotide gene variations of factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T as thrombophilic mutations. However, as current scientific data do not support an increased risk of thrombosis in...
متن کاملAssociation of Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T and A1298C Polymorphisms with Myocardial Infarction From North of Fars Province
Background: The association between Methylene tetrahydrofolate reductase polymorphism and Coronary Artery diseases risk has been both confirmed and refuted in a number of published studies. The aim of this study was to investigate whether genetic polymorphisms of MTHFR (C677T, A1298C) contributed to the development of myocardial infarction (MI). Materials and Methods: The present case-contro...
متن کاملMethylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’s Thrombasthenia
Background: The most common polymorphisms identified in the Methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. There are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like Glanzmann's t...
متن کاملMethylenetetrahydrofolate reductase gene polymorphisms in Burkina Faso.
In Burkina Faso, the levels of plasma homocysteine (Hcy) are lower and the methionine loading tests suggest a more effective Hcy metabolism [1,2]. We found a relevant difference in the allele frequencies of C677T: T 7.7% in the young and 3.3% in old subjects respectively (see Table 1). Frequencies of C677T genotypes in old and young individuals were in Hardy Weinberg equilibrium (HWE). The diff...
متن کاملMethylenetetrahydrofolate Reductase Gene Polymorphisms and Cardiovascular Diseases
A growing body of evidence suggests that mutations in MTHFR gene are involved in cardiovascular diseases (CVD) cardiac development, atherosclerosis, myocardial infarction, heart failure, hypertension, aneurysmsand several other diseasecancers, neurological and metabolic disorders. Genetic variations in other genes are added risk for CVDa leading cause of morbidity and mortality around the globe...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2003
ISSN: 0007-1048
DOI: 10.1046/j.1365-2141.2003.04151_1.x