Search results for "Methylenetetrahydrofolate dehydrogenase"

showing 3 items of 3 documents

Superficial thrombophlebitis in varicose vein disease: the particular role of methylenetetrahydrofolate reductase.

2010

Background The purpose of this study was to compare the genetic background of superficial (SVT) and deep vein thrombosis (DVT). Methods Factor V (FV)-Leiden (G16891A)-, factor II(G20210A)-mutations, protein C- and S, as well as methylenetetrahydrofolate reductase (MTHFR) polymorphisms at C677T and A1298C, and serum homocysteine levels (hcy) were determined in 29 patients with SVT and 26 with DVT. Findings FV- and –II-mutations were less frequent in patients with SVT (2/3) compared with DVT (9/5), respectively ( P < 0.002 in case of FV). However, the frequency of the MTHFR C677T polymorphism was significantly higher in patients with SVT compared with DVT (CT 12 versus 10, and TT 7 versus …

AdultMalemedicine.medical_specialtyPathologyDeep veinMutation MissenseDiseaseGastroenterologyVaricose VeinsInternal medicineVaricose veinsGenotypemedicineHumansSuperficial thrombophlebitisGenetic Predisposition to DiseaseHomocysteineAgedAged 80 and overMethylenetetrahydrofolate Dehydrogenase (NADP)Venous Thrombosisbiologybusiness.industryFactor VGeneral MedicineMiddle AgedThrombophlebitismedicine.diseaseThrombosisVenous thrombosismedicine.anatomical_structureAmino Acid SubstitutionMethylenetetrahydrofolate reductasebiology.proteinFemaleProthrombinmedicine.symptomCardiology and Cardiovascular MedicinebusinessPhlebology
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Significant association of MTHFD1 1958GA single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.

2014

Objectives: Nonsyndromic cleft lip and palate (NSCLP) is genetically distinct from those with syndromic clefts, and accounts for ~70% of cases with Oral clefts. Folate, or vitamin B9, is an essential nutrient in our diet. Allelic variants in genes involved in the folate pathway might be expected to have an impact on risk of oral clefts. Given the key role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) in folate metabolism, it would be of significant interest to assess its role in NSCLP etiology. Study Design: The present study aims at examining the association between MTHFD1 1958G>A polymorphism and NSCLP risk by conducting a case-control study in south Indian population. Our sample …

GenotypeCleft LipMTHFD1IndiaSingle-nucleotide polymorphismOdontologíaBiologyPolymorphism Single NucleotideMinor Histocompatibility AntigensGenotypeSNPHumansAlleleFamily historyGeneral DentistryGeneticsMethylenetetrahydrofolate Dehydrogenase (NADP)ResearchCase-control studyBrain:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludCleft PalateOtorhinolaryngologyMethylenetetrahydrofolate dehydrogenaseCase-Control StudiesUNESCO::CIENCIAS MÉDICASSurgeryOral SurgeryMedicina oral, patologia oral y cirugia bucal
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Effect of genetic polymorphisms involved in folate metabolism on the concentration of serum folate and plasma total homocysteine (p-tHcy) in healthy …

2015

Data on the effect of combined genetic polymorphisms, involved in folate metabolism, on the concentration of serum folate after folic acid supplementation are scarce. Therefore, we investigated the impact of seven gene polymorphisms on the concentration of serum folate and p-tHcy in healthy subjects after short-term folic acid supplementation. In a randomized, double blind, crossover study, apparently healthy subjects were given either 0.8 mg folic acid per day (n = 46) or placebo (n = 45) for 14 days. The washout period was 14 days. Fasting blood samples were collected on day 1, 15, 30 and 45. Data on subjects on folic acid supplementation (n = 91) and on placebo (n = 45) were used for the…

medicine.medical_specialtybiologybusiness.industryEndocrinology Diabetes and MetabolismClinical nutritionPlaceboCrossover studyFolic acid supplementationDouble blindEndocrinologyBiochemistryPolymorphism (computer science)Internal medicineMethylenetetrahydrofolate reductaseMethylenetetrahydrofolate dehydrogenaseGeneticsmedicinebiology.proteinbusinessResearch Paper
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