Publication in a high impact journal: this is the first report on the synergistic effects of mutated variants of TPMT and 5,10- MTHFR on 6-MP induced toxicity. These effects were demonstrated in a group of pediatric ALL patients carrying mutated alleles in both genes, in 82.3% of whom hematotoxicity was diagnosed. Phenotype-genotype correlation for TPMT and MTHFR gene variants were assessed. 6-MP dose reduction, hematotoxicity, stomatitis and infections were more likely to occur in patients heterozygous for mutated TPMT than in wild type patients.
COBISS.SI-ID: 2447217
According to our previous collaboration with Department of Obstetrics and Gynecology University of Auckland, New Zealand, the aim of the study was to determine whether variants in the promoter region of the inhibin alpha gene (INHA) are associated with premature ovarian failure. Genotypic status of INHA promoter polymorphisms was analyzed. Significant differences in INHA promoter allele frequency were observed between POF patients and controls; promoter variants are associated with the development of POF.
COBISS.SI-ID: 25691353