Laboratory informatics based evaluation of methylene tetrahydrofolate reductase C677T genetic test overutilization
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چکیده
منابع مشابه
Role of Hyperhomocysteinemia and Methylene Tetrahydrofolate Reductase C677T Polymorphism in Idiopathic Portal Vein Thrombosis
PURPOSE Portal vein thrombosis (PVT) is a rare and life-threatening vascular disorder characterized by obstruction or narrowing of the portal vein. Hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been studied in PVT patients with conflicting results. In the present study the association of hyperhomocysteinemia and MTHFR C677T polymorphism with PVT ris...
متن کاملAssociation between the methylene tetrahydrofolate reductase gene C677T mutation and colchicine unresponsiveness in Behcet’s disease
PURPOSE Behcet's disease (BD) is a multisystemic immunoinflammatory disorder characterized by mucocutaneous, ocular, vascular, and central nervous system manifestations. The common methylene tetrahydrofolate reductase (MTHFR) gene C677T mutation is a known risk factor for thrombosis. The aim of this study was to investigate the MTHFR gene C677 mutation in patients with BD and evaluate if there ...
متن کاملPrevalence of methylene tetrahydrofolate reductase polymorphism in South Indian population
Prevalence of methylene tetrahydrofolate reductase (MTHFR) gene mutations in South Indian population was investigated from a total of 608 samples, 420 adults and 188 newborns. Detection of mutation was carried out focussing on the two most common mutations of the MTHFR gene (C677T and A1298C) using PCRbased RFLP method. T-allele frequency was almost similar between the newborns and adults (0.09...
متن کاملAssociation between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.
BACKGROUND Association between the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) is contentious. METHODS AND RESULTS We compared genotypes between CHD cases and controls and between mothers of CHD cases and controls. We placed our results in context by conducting meta-analyses of previously published studies. Among 5814 cases wi...
متن کامل5,10-methylene tetrahydrofolate reductase C677T gene polymorphism, homocysteine concentration and the extent of premature coronary artery disease in southern Iran
Elevated level of plasma homocysteine (Hcy) has been identified as an independent risk factor for coronary artery disease (CAD). Furthermore, numerous studies have documented the influences of a common polymorphism (C677T) of methylenetetrahydrofolate reductase (MTHFR) on homocysteine levels. However the relationship between this mutation and cardiovascular diseases (CVD) has remained as a cont...
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ژورنال
عنوان ژورنال: Journal of Pathology Informatics
سال: 2013
ISSN: 2153-3539
DOI: 10.4103/2153-3539.122389