The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism. MTHFR catalyses NADPH-linked reduction of N 5,10-methylene-tetrahydrofolate to N 5-methylene tetrahydrofolate. The MTHFR gene exhibits 2 common genetic polymorphisms (C677T and A1298C). The MTHFR 677 C to T substitution converts alanine to a valine residue, resulting in a thermolabile enzyme [1]. A red...

Type 2 diabetic nephropathy is a major cause of end-stage renal disease. MTHFR plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. The aim of this study was to investigate the association between MTHFR C677T and A1298C genomic polymorphisms and development of type 2 diabetic nephropathy in a Chinese population. A hospital-based case-control study was performed. A total ...

BACKGROUND Inconsistent results were reported in recent literature regarding the association between methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and the susceptibility of congenital heart disease (CHD). In this study, we performed a meta-analysis to investigate the associations by employing multiple analytical methods. METHODS Literature search was performed and pub...

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...

PURPOSE Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been implicated as a potential risk factor for epilepsy. To date, many case-control studies have investigated the association between MTHFR C677T polymorphism and epilepsy susceptibility. However, those findings were inconsistent. The objective of this study is to evaluate the precise association between MTHFR C677T poly...

Aim: To compare the D-Dimer levels in patients with mild COVID-19 disease and without hereditary thrombophilia.
 Material Method: Factor V Leiden (G1691A) mutation, methylene tetrahydrofolate gene mutation (C677T, A1298C), PAI-1 (4G-5G) FXIII (V34L) mutations were examined all included study for various reasons such as recurrent miscarriage venous embolism. Patients any thrombophilia group...

Many publications demonstrate a relationship between acute myocardial infarction and genetic mutations. In our case, a 26-yearold young woman was admitted to the hospital with complaints of severe chest pain. She had no risk factors for coronary heart disease but two of her sisters and one of her brothers had suffered sudden cardiac death. DNA samples obtained from peripheral blood were studied...

Hyperhomocysteinemia induced by the C677T genetic variant in MTHFR (methylenetetrahydrofolate reductase) has been implicated in neuronal cell death of retinal ganglion cells (RGC), which is a characteristic feature of glaucoma. However, association of MTHFR C677T with glaucoma has been controversial because of inconsistent results across association studies. Association between MTHFR C677T and ...

Sugérese que la hiperuricema sea un factor de riesgo cardiovascular en humanos adultos con síndrome metabólico (SM) El polimorfismo C677T en el gen metilenotetrahidrofolato reductasa (MTHFR) ha sido asociado com la hiperuricemia. Datos sobre los factores asociados con la uricemia en humanos adultos con SM genotipados para el polimorfismo C677T en el gen MTHFR son inexistentes. Se objetivó inves...