The Association of SYCP3 T657C Polymorphism with Early Pregnancy Loss in Russian Women

Background. Aneuploidy is a consequence of the chromosome nondisjunction. Majority of aneuploid embryos die in utero between the 6th and 10th week, resulting in early pregnancy loss of approximately 15% of all clinically recognized pregnancies. SYCP3 plays an important role in pairing and recombination of homologous chromosomes in meiosis I, and it has been shown that the lack of this gene leads to sterility in male and subfertility in female mice due to chromosome nondisjunction. So SYCP3 is a candidate gene to evaluate the hypothesis of fetal aneuploidy arisen from meiosis gene mutations as a cause for human early pregnancy loss. Methods. In our study, the SYCP3 T657C polymorphism in 100 Russian women with early pregnancy loss (EPL) that were classified into 2 subgroups: with sporadic pregnancy loss (SPL, n=50) and recurrent pregnancy loss (RPL, n=50), as well as 56 normal fertile women (control), was examined to determine whether there is an association between the polymorphism and early pregnancy loss in Russian population. Genomic DNA was extracted from peripheral blood samples using the standard procedure of a commercially available kit. Genotyping of SYCP3 gene was determined by allele-specific polymerase chain reaction method. Data were analyzed using SPSS statistical software version 22. The chi-square test and Fisher’s exact test were used to compare genotype and allele frequencies between analyzed groups. The odds ratio (OR) and 95% confidence intervals (CI) were used for risk estimation. Results. Frequency of the heterozygous genotype (CT) was significantly higher in the group of women with early pregnancy loss as well as in women with sporadic pregnancy loss (p<0.05). In women with RPL, we found that the frequency of this genotype tended to increase but could not make a significant difference when compared with the control group. Conclusion. Our findings postulate that the T657C polymorphism of the SYCP3 gene is possibly associated with a sporadic early pregnancy loss.

SYCP3, генный полиморфизм, потеря беременности на ранних сроках, привычное невынашивание беременности, SYCP3, SNP, early pregnancy loss, recurrent pregnancy loss