Exploring the association between STOX1:p.(Tyr153His) variant and preeclampsia risk in Egyptian women

Abstract

Abstract Preeclampsia is a multi-factorial disease, with both genetic and environmental factors contributing to its development. The genetic susceptibility in preeclampsia has been determined to be around 50%. STORKHEAD_BOX1 PROTEIN 1 (STOX1), is the gene of interest in this study. The most frequent variant of this gene is c.457T > C (rs1341667). This case-control study was conducted on 96 participants recruited from both the Obstetrics outpatient clinic at Kasr Al Ainy hospital and the High-Risk Pregnancy Department, Cairo University. Patients were divided into 2 groups: (group I: 48 pregnant females with preeclampsia diagnosed on basis of the American College of obstetrics and gynecology criteria, group II: 48 healthy control pregnant females of matching age were included. After collecting the blood sample, DNA was extracted and detection of STOX1(NM_001130161.3): c.457T > C: p. (Tyr153His) gene variant by TaqMan Real-Time PCR were done on all involved individuals. The homozygous CC genotype, previously linked to increased preeclampsia risk, was identified in 27.1% of controls (n = 13) and 31.3% of cases (n = 15), with no statistically significant difference (P = 0.654). The heterozygous CT genotype, associated with moderate risk, was observed in 41.7% of controls (n = 20) and 39.6% of cases (n = 19) (P = 0.835). The inheritance model analysis showed no statistically significant association between the STOX1 c.457T > C variant and preeclampsia under any of the tested models. Genotypic distribution conformed to Hardy-Weinberg equilibrium in both groups, supporting the absence of deviation. These findings suggest no significant association between the STOX1 (NM_001130161.3): c.457T > C (p.Tyr153His) variant and susceptibility to preeclampsia in the studied population.