Akademik Veri Yönetim Sistemi
Human Gene, cilt.37, 2023 (Scopus)
Preeclampsia (PE) is a common pregnancy disease that occurs in the second trimester of pregnancy and is characterized by high blood pressure and proteinuria. Recent studies have shown that the STOX1 gene, which is associated with the FOX multigene family and expressed in the early placenta, can directly affect the PE phenotype. STOX1 is a transcription factor that affects the high prevalence of human gestational disease by targeting genes in the pathways that affect cell proliferation and migration. In this study, the effects of STOX1 gene variations Y153H and -922 T > C polymorphisms, previously associated with PE by our team, were evaluated on each other and the disease phenotype. In the study, the results obtained from our previous polymorphism studies were used. As a result of statistical analysis, it was observed that STOX1 Y153H and -922 T > C variations were effective together in the development of early-onset Preeclampsia (EOPE). Our in-silico analysis revealed the deleterious impact of the mutation on the structure and function of the protein. Although PE is a disease that occurs with pregnancy and shows its effects mostly during this period, it has been stated that women and children with a history of PE are more prone to various disorders, especially cardiovascular disease in the following years. Therefore, understanding the pathogenesis of the disease is important for both prevention and treatment process. The variations on STOX1 gene appear to be important in terms of disease risk.