Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consu...

Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neu­ rological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated with vascular diseases. Here, we report the case of a newborn with MTHFR mutation­associated CSVT. Analysis of MTHFR in the patient detected heterozygous C677T (677CT) and A129...

background recurrent pregnancy loss (rpl) is a serious problem for pregnancy. there is evidence that vascular complications play a principal role in rpl. methylenetetrahydrofolate reductase (mthfr) is a key enzyme in folate metabolism. polymorphisms (c677t, a1298c) of mthfr gene are associated with decreased mthfr activity. objectives the aim of this study was to determine the association betwe...

Essential hypertension (EH) is a common, multifactorial disorder likely to be influenced by multiple genes of modest effect. The methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation is functionally important, being strongly associated with reduced enzyme activity and increased plasma levels of homocysteine. Mild hyperhomocysteinemia is a known risk factor for cardiovascular disease (...

BACKGROUND Elevated plasma homocysteine (Hcy) level has been established as a significant risk factor for venous thrombosis and cardiovascular disease. Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation has been associated with elevated plasma Hcy concentration and may contribute to retinal vein thrombosis (RVT) development. The aim of the present study was to inves...

Mild hyperhomocysteinemia is a risk factor for atherosclerotic vascular disease. Homozygosity for the C677T mutation in the gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) is frequently associated with hyperhomocysteinemia, particularly in individuals with low levels of serum folate, and has been directly associated with cardiovascular disease in certain populations. The purpose of th...

OBJECTIVE Fibromyalgia syndrome (FM) is a common disease characterized by generalized body pain, sensitivity in certain physical areas (sensitive points), lowered pain threshold, sleep disorder, and fatigue. The study aimed to determine the effects ACE I/D and MTHFR C677T gene polymorphisms in Turkish patients with FM and evaluate if there was an association with clinical features. METHODS Th...

BACKGROUND Intrauterine growth restriction (IUGR) is a major cause of fetal morbidity and mortality during pregnancy. The role of mutation in the factor V gene, prothrombin gene, MTHFR gene, as risk factors for intrauterine growth restriction during pregnancy, is not very well known so far. MATERIALS AND METHODS This is a retrospective study of 151 pregnant women with a history of complicated...

The C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and the G20210A mutation at the 3' untranslated region (3'UTR) of the prothrombin gene may be considered to be genetic risk factors that contribute to the clinical heterogeneity in sickle cell disease. The current study investigated a group of sickle cell (SS) patients from Salvador-Bahia, Northeast Brazil in order to deter...