SNPs rs2961950 and rs2910203 in PTTG1 gene and Clinical Factors: Examination and Analysis

Recurrent spontaneous abortion (RSA) is defined as 3 or more consecutive pregnancy losses, reportedly affecting 1-5% of couples. Numerical abnormalities (especially aneuploidy) are the most common causes of RSAs. Aneuploidy is caused by a defect in the spindle assembly checkpoint (SAC) mechanism. This study aimed to examine the correlation between clinical factors and polymorphisms rs2961950 and rs2910203 in the PTTG1 gene in RSA patients in Zanjan province. Genomic DNAs were prepared from blood samples of 30 women with a history of RSA (case group) and 30 women without any prior history of abortion (control group). Polymorphisms rs2961950 (A2426G) and rs2910203 (C1892G) in the PTTG1 gene were genotyped using the tetra-primer ARMS-PCR method and hence analyzed by agarose gel electrophoresis. The obtained results were statistically analyzed using SPSS software (version 20). The results from examining the genotypic and allelic frequencies of the two polymorphisms rs2961950 and rs2910203 in the PTTG1 gene indicated no significant difference between the case and control groups, but there was a significant relationship between the Simultaneous genotyping of polymorphisms rs2961950 and rs2910203 in the PTTG1 gene and RSA (P=0.024). There were also significance-level relationships between endocrine factors in polymorphism rs2961950 (P=0.027) and simultaneous genotyping of SNPs (P=0.052), as well as age (P=0.173) and the number of abortions (P=0.075) for SNP rs2910203 polymorphism. The results show that the simultaneous genotyping of SNPs rs2961950 and rs2910203 is a risk factor for women with RSA, which can be introduced as a diagnostic factor in health, infertility, and genetic counseling centers.