TERT genotyping for evaluation of reproduction failure

Abstract

Reproduction failure was associated with advanced maternal age, but the mechanism underlying this events were still under debate. Telomere length of the oocytes has been correlated with the embryo quality, the chance of successful pregnancy and further development of the conception. The study included a total of 35 women with pregnancy loss and 35 fertile proven females. Cytogenetic analysis of the chorionic villi was done for all the women from the study lot that exhibit a pregnancy loss. The TERT rs2736100 genotyping was performed after enrollment of the last patient, and the laboratory staff was blinded to the patients’ data. Comparing the frequency of the genotypes in the study groups was found that in the study lot the AC genotypes was the most frequent (51.4%), while in the control lot the AA genotypes was the prevalent genotype (60%). The difference between genotypes frequencies in the study lot and the control lot were statistically significant. To our knowledge, this is the first study addressing the potential role of a single nucleotide variant in TERT gene in relation with miscarriage.