Settin et al (2014) researched the link between polymorphisms in both ACE and MTHFR genes and the susceptibility for and complications of Type 2 Diabetes Mellitus (T2DM) in an Eygyptian population. 203 patients with T2DM were studied alongside 311 healthy controls, with ACE and MTHFR C677T and A1298C genotyped. Results showed those with the

The MTHFR enzyme is vital for DNA synthesis and methylation, which has a key role during spermatogenesis. Varicocele is one of the main reasons for male infertility, of which the aetiology remains unclear. Therefore, Ucar et al (2014) evaluated the C677T and A1298C polymorphism frequency in patients with varicocele and normal men, as

Studies have suggested an effect of MTHFR C677T genotype on CVD in populations with low dietary folate intake. Therefore, the authors aimed to examine the association between MTHFR, serum folate B12 and CVD related outcomes in a population with no mandatory folic acid fortification policy. MTHFR C677T, serum folate, serum B12, hypertension and dyslipidaemia

The authors Wang et al (2014) studied the ability of the MTHFR C677T polymorphism to predict hyperhomocysteinemia (HHcy) in Chinese patients with hypertension. Plasma Hcy and the C677T genotype were examined in 1058 Chinese patients with hypertension. No control group appears to have been used. Overall, the 677TT genotype was consistently associated with higher

This review article by Nazki et al (2014) examined the evidence currently available on folate, methylation and genetic polymorphisms. It lists the main functional polymorphisms of the MTHFR gene to be C677T, A1298C, with other reported polymorphisms known for genes T1059C, T1317C and G1793A. In regards to the C677T mutation, the heterozygous C677T mutation

Jang et al (2014) studied survival rates of Colorectal Cancer (CRC) in a Korean population in relation to 3 genetic polymorphisms, of which MTHFR mutations C677T and A1298C were included. 372 CRC Korean patients (215 men and 157 women) were genotyped to examine genetic expression. Interestingly, the C677T mutation was the most common MTHFR

The relationship between Homocysteine (Hcy), MTHFR C677T polymorphism and Cerebral Veno-sinus Thrombosis (CVT) in an Indian population was studied by Bharatkumar et al (2014). 185 patients with CVT were studied against 248 healthy controls. Fasting Hcy was found to be higher in patients with CVT, representing a 4.54 fold increased risk of CVT development

A meta-analysis conducted by Qi et al (2014) examined the influence of MTHFR polymorphisms on Hepatocellular Carcinoma (HCC) risk in a Chinese Population, as studies linking the two are currently inconclusive. 12 case controlled studies were included in the analysis, totally 7 studied with 6384 subject examining the MTHFR C677T polymorphism, and five studied

The link between MTHFR polymorphisms and the aetiology of retinal vein occlusion (RVO) has not been sufficiently clarified. Therefore, 72 Tunisian patients with RVO compared to a matched group of 140 healthy controls were genotyped for the MTHFR C677T and A1298C polymorphisms. The A1298C polymorphisms were only found to be significantly associated with RVO

A meta-analysis was conducted by Zhu et al (2013) to determine the relationship between the MTHFR C677T polymorphism and the risk of Parkinson’s Disease (PD) in general populations. Case controlled samples from European and Asian populations were employed, totalling 13 studies with 1820 PD cases and 7530 healthy controls. Overall, the evidence demonstrated a

319 patients prescribed Methotrexate (MTX) for diagnosed rheumatoid arthritis were genotyped for several SNP’s involved in the folic acid pathway (folylpoly-gamma-glutamate synthetase (FPGS), gamma-glutamyl hydrolase (GGH),MTHFR A1298C + C677T)) to establish their association with MTX + significant adverse events. The results demonstrated the dosing of MTX in the presence of the A1298C mutation was

The MTHFR enzyme plays a very important role in ensuring the nervous system stays healthy, by governing the coating of nerves in protective layer which allows them to function strongly. In this study, Ineichen et al (2014) showed an association between MTHFR A1298C and the development of Multiple Sclerosis in