Background: It is estimated that 1-5% of couples suffer from recurrent pregnancy loss (RPL). Recent studies have shown the effects of gene polymorphisms in RPL. Objective: The aim of this study was to evaluate 3 gene polymorphisms including rs1048943 of CYP1A1, rs28371725 of CYP2D6, and rs7830 of NOS3 in idiopathic RPL to identify their association with RPL. Materials and Methods: Blood samples were collected from 136 women with at least 2 consecutive idiopathic miscarriages (case group) and 136 women with no history of miscarriage and at least one successful pregnancy (control group) from the Iranian Azeri population. This study was carried out between April 2018-April 2020. Amplification-refractory mutation system polymerase chain reaction was used for the rs7830, rs1048943 and rs28371725 polymorphisms in order to genotype each extracted genomic DNA sample. After that, Chi-square, Fisher’s exact test and logistic regression were used to investigate whether each of these polymorphisms is associated with RPL. Results: Among these polymorphisms, only rs1048943 of CYP1A1 showed a statistically significant association with RPL in the Iranian Azeri women studied. Conclusion: Our results suggest that CYP1A1 gene polymorphisms might be associated with a reduced risk of RPL. Further studies in other populations and in the same population with a larger sample size, as well as functional genomics analyses such as gene expression analyses or epigenetic studies are required to validate our results. Key words: Recurrent pregnancy loss, Polymorphism, CYP1A1, CYP2D6, NOS3.
Background & aim: Recurrent pregnancy loss is defined as loosing at least 2 pregnancies before 20 th weeks of gestation. Besides all the known causative factors, in about half of the cases, the causing factor, remains unknown. In recent years, some studies have shown the role of candidate genes polymorphisms in RPL. CDH1 is one of these candidate genes that plays critical role in embryo implantation. The aim of the present study was to evaluate the relation between rs16260 of this gene with RPL. Methods:In the present case-control study that was conducted between 2018-2019, 120 women suffering from recurrent unexplained miscarriage and 120 women with no history of infertility and miscarriage and having at least one healthy child who were referred by a gynecologist to a private medical genetics laboratory in were referred to Tabriz, were included in the study as patient and control groups. The studied polymorphism was checked by ARMS-PCR method and the results were analyzed using the chi-square test using SPSS version 26 software. (P˂0.05) Results:The frequencies of AA, AC and CC genotypes in the case group were 4(3.3%), 36(23.3%) and 76(73.4%) and in the control group were 8(6.7%), 28(30%) and 88(63.3%) respectively. P-Value=0.201 Conclusion:Based on the analyzes performed in the multiplicative and additive models, there was no significant relationship between the presence of polymorphism and recurrent miscarriage.
Background and Objective: The mutation of F2 and PAI-1 genes can cause thrombophilia in women. The present study aimed to assess the relationship of recurrent pregnancy loss (RPL) with rs3136520 in F2 and rs6090 in PAI-1. Materials and Methods: This case-control study was conducted on 120 women with idiopathic RPL as case group and 120 healthy women without any history of infertility or abortion with at least one healthy child as the control group. These subjects were referred to a private genetic lab by a gynecologist. Both polymorphisms were studied using the amplificationrefractory mutation system-polymerase chain reaction approach, and the obtained data were analyzed in SPSS software (version 26) using the chisquared test (P˂0.05). Results: In the multiplicative model, there was a significant association between rs6090 and RPL (OR=0.222; 95%CI=0.082-0.599); nonetheless, no relationship was detected between rs3136520 and RPL (OR=1, 95%CI=0.488-2.049). Moreover, according to additive model, there was no association between rs3136520 and RPL; however, there was a significant relationship between AG genotype in rs6090 and RPL (OR=0.245; 95% CI=0.066-0.901). Conclusion:As evidenced by the obtained results, there was a protective association between rs6090 and RPL; nonetheless, there was no relationship between rs3136520 and RPL.
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