engleski

A single nucleotide polymorphism of DNA methyltransferase 3B gene is a potential risk factor for reccurent spontaneous abortion

Aim: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 22nd week of gestation. It affects approximately 1% of couples and can be caused by several factors. However, the cause remains unidentified in about 50% of the cases, which are classified as idiopathic (IRSA). Among various possible etiological factors, aberrant DNA methylation has been suggested to be one of the possible causes of IRSA. Considering the growing evidence of the important roles of DNA methylation in gametogenesis and early pregnancy, as well as the results of multiple studies that indicate abnormal methylation patterns in the endometrium, spermatozoa and placenta of patients with IRSA, our aim was to investigate the potential association of DNA methyltransferase gene polymorphisms (DNMT1 rs2228611, DNMT3A rs1550117 and DNMT3B rs1569686) with IRSA in Slovenian reproductive couples. Patients and methods: 146 couples with ≥3 idiopathic spontaneous abortions and 149 control women and men were included in this case-control study. Genotyping was performed using polymerase chain reaction and restriction fragment length polymorphism methods. Results: We found a statistically significant higher frequency of the DNMT3B rs1569686 GG genotype (X2=7.37, P=0.025) and G allele (X2=6.33, P=0.012) in women with IRSA compared to controls. Additionally, the odds for IRSA in women were increased under the recessive genetic model (GGvsTG+TT: OR=1.92 ; 95% CI=1.18-3.09 ; P=0.008). There were no statistically significant differences in genotype and allele frequencies of any other tested polymorphism between IRSA patients and controls. Moreover, no significant associations occurred between the DNMT1 rs2228611 and DNMT3A rs1550117 polymorphisms and the risk of IRSA. Conclusion: Our results suggest that the GG genotype of the rs1569686 polymorphism in the DNMT3B gene in women might be a genetic marker for IRSA.

DNA methyltransferases ; pregnancy ; recurrent spontaneous abortion ; single nucleotide polymorphisms

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