Anita Barišić1, Nina Pereza1, Alenka Hodžić2, Saša Ostojić1, Borut Peterlin2. 1. Department of biology and medical genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia. 2. Department of Gynaecology and Obstetrics, Clinical Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.
Abstract
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 (GGvsTG+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.
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 (DNMT1rs2228611, DNMT3Ars1550117, DNMT3Brs1569686) 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 DNMT3Brs1569686 GG genotype (X2 =7.37;P = .025) and G allele (X2 = 6.33;P = .012) in RSAwomen compared with controls. Moreover, the odds for RSA in women were increased under the recessive genetic model (GGvsTG+TT: OR=1.92; 95% CI=1.18-3.09; P = .008). CONCLUSION:DNMT3Brs1569686 gene polymorphism in women might be a genetic marker for the susceptibility to RSA.