Methylenetetrahydrofolate reductase gene polymorphisms and neural tube defects epidemiology in the Slovak population.

Background: Folate deficiency is a known factor contributing to the formation of neural tube defects (NTDs). Many folate metabolism gene variants have been investigated, but only a few substantial associations have been established, the C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene being one of the most significant.

Methods: We determine the MTHFR C677T and A1298C genotypes in 93 Slovak NTD patients and 290 control newborns with respect to sex and ethnicity.

Polymorphisms of the XRCC1 and XPD genes and breast cancer risk: a case-control study.

The purpose of this case control study was to evaluate the role of X-ray repair cross-complementing group 1 (XRCC1) and xeroderma pigmentosum group D (XPD) genotypes as genetic indicators of susceptibility to breast cancer (BC). We analysed DNA samples from 114 breast cancer patients and 113 control subjects using polymerase chain reaction-restriction fragment length polymorphism. For the single nucleotide polymorphisms in XRCC1 exon 10 (Arg399Gln, G/A) and XPD exon 23 (Lys751Gln, A/C), no remarkable differences for genotype distribution and allele frequencies were observed between BC group and control group in the study.