Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study was designed to examine the effect of two single nucleotide polymorphisms in the reduced folate carrier 1 (RFC1 80G>A) and the glutamate carboxypeptidase 2 (GCP2 1561C>T) gene on total homocysteine (tHcy) plasma level and folate status in 120 chronic dialysis patients. Red blood cell folate concentration was higher in patients with the GCP2 CT or TT genotype (ANOVA, P = 0.04). Among patient groups with different RFC1 genotypes, red blood cell folate level was not significantly different. A multivariate analysis confirmed that the GCP2 1561C>T genotype (P = 0.011) had a significant influence on the red blood cell folate concentration. Overall, serum folate, creatinine, and the GCP2 polymorphism explained nearly 50% of the variance of red blood cell folate. A linear multivariate regression analysis showed that red blood cell folate (P < 0.001), creatinine (P < 0.001), and the 5,10-methylenetetrahydrofolate reductase (MTHFR) 677T allele (P = 0.013) are independent predictors of tHcy plasma level explaining 49% of the variance of tHcy plasma concentration. GCP2 1561C>T and RFC1 80G>A showed no effect on tHcy and folate plasma level. In conclusion, GCP2 1561C>T, but not RFC1 80G>A, is a predictor of red blood cell folate level in chronic dialysis patients. Both polymorphisms have no major effect on tHcy plasma concentration in end-stage renal disease patients.
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PMID:Effect of glutamate carboxypeptidase II and reduced folate carrier polymorphisms on folate and total homocysteine concentrations in dialysis patients. 1270

Multiple studies have reported an association between disturbances of folate metabolism and increased risk of gastric cancer, including low intake of folate, low levels of folate in blood or genetic factors affecting folate metabolism. Among the genetic factors, in particular a common polymorphism in the gene encoding for 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) has been linked to gastric cancer. Other polymorphisms in folate-metabolising genes have been less frequently investigated. Therefore, we analyzed this polymorphism, the glutamate carboxypeptidase (GCP) II C1561T and the reduced folate carrier (RFC) G80A in a case-control study involving 106 patients with histologically confirmed and characterized gastric cancer with adjustment for other established risk factors for gastric cancer in comparison to 106 age- and sex-matched controls. Neither the MTHFR nor the GCP gene polymorphisms showed an association to cancer diagnosis, to tumor stage, grade of differentiation or Lauren type. However, non-cardia cancers were more likely to exhibit the 80GA and 80AA RFC genotypes, compared to cancers of the gastric cardia (adjusted OR 0.28; 95% CI=0.11-0.71). Thus, gene polymorphisms of the RFC gene might contribute to an increased risk of developing distal gastric cancer.
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PMID:Gene polymorphisms of folate metabolizing enzymes and the risk of gastric cancer. 1720 63