BACKGROUND Increased plasma total homocysteine (tHcy), a risk factor for cardiovascular disease, is related to genetic, environmental, and nutritional factors, in particular folate status. Future large epidemiologic studies of the genetic basis of hyperhomocysteinemia will require high-throughput assays for polymorphisms of genes related to folate and Hcy metabolism. METHOD We developed a hig...

Transcriptional silencing in Saccharomyces cerevisiae occurs at several genetic loci, including the ribosomal DNA (rDNA). Silencing at telomeres (telomere position effect [TPE]) and the cryptic mating-type loci (HML and HMR) depends on the silent information regulator genes, SIR1, SIR2, SIR3, and SIR4. However, silencing of polymerase II-transcribed reporter genes integrated within the rDNA loc...

Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis. Subsequently, more than 50 small case-control studies investigated whether or not maternal polymorphisms of folate pathway genes could be risk...

Received 26 January 2011 Revised 28 January 2011 Accepted 29 January 2011 Early online 29 January 2011 Print 31 January 2011 This study addresses the issues in translating the laboratory derived data obtained during discovery phase of research to a clinical setting using a breast cancer model. Laboratory-based risk assessment indicated that a family history of breast cancer, reduced folate carr...

Inter-individual variation in patterns of DNA methylation at birth can be explained by the influence of environmental, genetic and stochastic factors. This study investigates the genetic and non-genetic determinants of variation in DNA methylation in human infants. Given its central role in provision of methyl groups for DNA methylation, this study focuses on aspects of folate metabolism. Globa...

Polymorphism in genes coding drug-metabolizing enzymes may cause individual differences in the effectiveness and toxicity of many medications, including cytostatics. Although in recent years intensive treatment has positively influenced the prognosis in leukemias, many adverse effects resulting from nonspecific actions and the narrow therapeutic index of anti-cancer drugs are still observed dur...

We have read with interest the recent study by Wang et al. [1], which has been published in Medical Oncology. In this study, the authors investigated the effects on methotrexate (MTX) plasma concentrations of polymorphism rs1051296 in a miRNA binding site in solute carrier family 19, member 1 (SLC19A1), analyzing a group of 131 Chinese children with acute lymphoblastic leukemia (ALL). They conc...

Methods The data of 116 consecutive patients with JIA treated with MTX at the University Children’s Hospital Ljubljana from June 2011 to May 2014 have been retrospectively reviewed. The disease activity was measured by JADAS 71 score 3 and 6 months after the beginning of treatment with MTX and at the last follow up visit. All adverse events were noted separately for different organ systems. Gen...

Methods The data of 77 consecutive patients with JIA treated with MTX at the University Children’s Hospital Ljubljana from June 2011 to February 2013 have been retrospectively reviewed. The disease activity was measured by JADAS 71 score 3 and 6 months after the beginning of treatment with MTX and at the last follow up visit. All adverse events were noted separately for different organ systems....

Background: Methotrexate (MTX) is an anti-folate drug with anti-proliferative and anti-inflammatory effects. MTX proved to be the most highly effective, fast-acting disease modifying anti-rheumatic (DMARD), being widely used for treatment of rheumatoid arthritis (RA) (1). Objectives: This review aims describe main genetic variants identified concerning proteins that play a role in methotrexate’...