BACKGROUND 5,10-Methylenetetrahydrofolate reductase (MTHFR) plays a central role in folate metabolism by irreversibly converting 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate, a predominant circulating form of folate. Folate is reportedly important for milk protein synthesis, and MTHFR may be a key regulatory point of folate metabolism for milk protein synthesis in mammary epith...

Female athletes who endure physical strain on the same bone area are prone to stress fractures. Preventing these improves their quality of life. Blood vitamin B2 (V.B2) and E (V.E) levels influence blood homocysteine (Hcy) levels, which, when elevated, increase risk We aimed determine effects V.B2 V.E supplementation plasma Hcy concentrations in carrying C677T polymorphism methylenetetrahydrofo...

glaucoma is a major cause of blindness worldwide. a single nucleotide polymorphism of the mthfr gene (c677t) has been associated with susceptibility to this disease, although this is controversial in the last decade. in this study, the possible association between the mthfr c677t polymorphism and the risk of developing primary open angle (poag) and pseudoexfoliation glaucoma (pexg) was investig...

Diabetic dyslipidemia is one of the leading causes of coronary artery disease (CAD) death. Genetic and environmental factors play an important role in the development of type 2 diabetes mellitus (T2DM) and dyslipidemia. The present study was aimed to investigate the association of ACE (rs4646994), FABP2 (rs1799883), MTHFR (rs1801133) and FTO (rs9939609) genetic polymorphism in T2DM with dyslipi...

INTRODUCTION Oral squamous cell carcinoma (OSCC) is a serious public health problem, due to its high mortality rate and worldwide rising incidence. OSCC susceptibility is mediated by interactions between genetic and environmental factors. Studies suggest that genetic variants encoding enzymes involved in folate metabolism may modulate OSCC risk by altering DNA synthesis/repair and methylation p...

In this study, we aimed to determine the potential association of MTHFR tagging single nucleotide polymorphisms (SNPs) with risk of developing esophagogastric junction adenocarcinoma (EGJA). MTHFR rs1801133 G>A, rs3753584 T>C, rs4845882 G>A, rs4846048 A>G and rs9651118 T>C polymorphisms were genotyped in 1,677 healthy individuals and 1,063 patients with EGJA. We found that MTHFR rs1801133 G>A p...

Tumours of the digestive system include a number malignant tumours such as oesophageal, gastric and colorectal cancers, which have highest incidence mortality rates in world. Their occurrence is related to variety factors, diet, environment genetics. As key enzyme process folate metabolism, MTHFR gene polymorphism plays an important role pathogenesis development gastrointestinal tumours. This p...

BACKGROUND Genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) and transcobalamin (TC) genes influence homocysteine metabolism which in turn may influence the risk of spontaneous abortion. It was hypothesized that there may be a significant interaction between MTHFR and TC genotypes which affects the pathogenesis of spontaneous abortion. METHODS AND RESULTS A total of 76 ...

PURPOSE Focal neurodegeneration of the optic nerve in Leber hereditary optic neuropathy (LHON) is primarily due to a maternally inherited mitochondrial DNA mutation. However, the markedly reduced penetrance of LHON and segregation pattern of visual failure within families implicates an interacting nuclear genetic locus modulating the phenotype. Folate deficiency is known to cause bilateral opti...

PURPOSE The role of homocysteine in the pathogenesis of arteriosclerosis and stroke is under debate. It is important to determine the interplay of factors that influence homocysteine plasma levels, such as age, gender, smoking and the genetic background. The T-allele of the common variant methylenetetrahydrofolate reductase (MTHFR) c.677C > T is the most prevalent known genetic cause of elevate...