A Single Nucleotide Polymorphism of DNA methyltransferase 3B gene is a risk factor for recurrent spontaneous abortion.

Problem Aberrant DNA methylation has been suggested as a potential cause of recurrent spontaneous abortion ( RSA). Considering the growing evidence on the important roles of DNA methylation in gametogenesis and early pregnancy, we investigated the potential association of DNA methyltransferase gene polymorphisms ( DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686) with RSA in Slovenian reproductive couples. Method of study A total of 146 couples with ≥3 consecutive spontaneous abortions and 149 control women and men with ≥2 normal pregnancies were included. Genotyping was performed using PCR- RFLP methods. Results We found a statistically significant higher frequency of the DNMT3B rs1569686 GG genotype (X²=7.37; P = .025) and G allele (X² = 6.33; P = .012) in RSA women compared with controls. Moreover, the odds for RSA in women were increased under the recessive genetic model ( GGvs TG+ TT: OR=1.92; 95% CI=1.18-3.09; P = .008). Conclusion DNMT3B rs1569686 gene polymorphism in women might be a genetic marker for the susceptibility to RSA. [ABSTRACT FROM AUTHOR]