Association between folate metabolism-related gene polymorphisms and methylation of p16INK4A and hMLH1 genes in spontaneously aborted embryos with normal chromosomal integrity

Objective To assess prevalent polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase enhancer region (TSER) and methylation patterns of p16 INK4A and hMLH1 genes in spontaneously aborted embryos (SAEs) with normal chromosomal integrity. Design Retrospectively analyzed, prospectively obtained database. Setting Bundang CHA General Hospital in South Korea. Patient(s) Fifty-nine SAEs ( Intervention(s) None. Main Outcome Measure(s) Genotype frequency of MTHFR, TSER polymorphisms, and methylation status of p16 INK4A and hMLH1 genes in SAEs with normal chromosomal integrity. Result(s) The distribution of the MTHFR 677C>T polymorphism differed significantly between SAEs with normal chromosomal integrity and the two control groups. Also, the frequency of combined MTHFR 677 and TSER genotypes was significantly different between the aborted embryos and the adult control group. However, the MTHFR 677C>T and 1298A>C and TSER polymorphisms were not associated with the methylation status of p16 INK4A and hMLH1 genes in SAEs with normal chromosomal integrity. Conclusion(s) Association between the MTHFR 677C>T polymorphism and the risk of SAEs with normal chromosomal integrity in the Korean population.