Cytotoxic T lymphocyte-associated antigen 4 rs231775 polymorphism and osteosarcoma.

Systematic reviews on osteosarcoma have concluded that CTLA4 rs231775 AA genotype influences risk for the disease in the Chinese population. Remarkably, rs231775 shows different frequencies in different human populations. Therefore, it would be interesting to know whether this SNP is related to the risk of osteosarcoma in other populations. The present study aimed to evaluate the association between rs231775 and the susceptibility of osteosarcoma in the Spanish population. We performed an updated meta-analysis including a total of 538 cases and 623 controls. The genotypic association analyses showed that the CTLA4 rs231755 was associated with osteosarcoma susceptibility in the Spanish population. When meta-analysis was performed, the results displayed that CTLA4 rs231775 AA genotype was associated with the risk of developing osteosarcoma in all analyzed populations (OR=2.07; 95% CI: 1.48-2.89).The rs231775 AA genotype could be considered as a susceptibility marker in osteosarcoma Keywords: CTLA4, rs231775, +49A/G and osteogenic sarcoma.

A systematic review and meta-analysis of MTHFR polymorphisms in methotrexate toxicity prediction in pediatric acute lymphoblastic leukemia.

Methotrexate (MTX) is an important component of therapy used to treat childhood acute lymphoblastic leukemia (ALL). Two single-nucleotide polymorphisms (SNPs) in the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, affect MTHFR activity. A large body of studies has investigated the potential role of MTHFR SNPs in MTX toxicity in pediatric ALL. However, the results are controversial. In this review and meta-analysis, we critically evaluate the relationship between the C677T and A1298C polymorphisms of MTHFR and MTX toxicity in pediatric ALL. The majority of published reports do not find associations between MTHFR polymorphisms and toxicity in pediatric ALL. When associations are reported, often the results are contradictory to each other. The meta-analysis confirms a lack of association. In conclusion, MTHFR, C677T and A1298C polymorphisms do not seem to be good markers of MTX-related toxicity in pediatric ALL.