Clinical and Genetic characteristics of Preeclampsia

Preeclampsia (PE) is a severe complication of pregnancy accompanied by arterial hypertension, edema, or proteinuria with impaired functioning of various organs and systems. It is also an important medical and social problem, which has been one of the leading causes of maternal and perinatal mortality and morbidity worldwide. Despite the achievements of modern medicine, the etiology of this pathology is still unknown. Recently, many scientists have especially focused on the study of genetic factors underlying the etiopathogenesis of PE, namely, the contribution of individual polymorphic loci of various candidate genes. The current study aimed to investigate the clinical characteristics of PE and the contribution of the polymorphic loci rs۱۰۴۲۸۳۸ of Progesterone Receptor (PGR) gene and rs۸۰۶۸۳۱۸ of the T-Box Transcription Factor ۲ (TBX۲) gene to the development of PE. The study was conducted on ۲۱۹ women with PE with the mean±SD age of ۲۶.۵۲±۵.۵۱ years and ۳۲۹ women with the physiological course of pregnancy as the control group with the mean±SD age of ۲۶.۲۷±۴.۸۸ years. In total, ۶۴.۲۰%, ۶۸.۲۹%, ۱۶.۴۴%, ۹۸.۶۳%, and ۳۵.۴۸% of women with PE had increased systolic and normal diastolic blood pressure (SBP and DBP) values, proteinuria, edema, and overweight (BMI≥۲۵), respectively. In the control group, ۱۰۰%, ۱.۵۳%, ۱.۱۲%, and ۳۵.۴۸% of cases had normal SBP values with no proteinuria, DBP>۹۰ mm Hg, edema, and overweight (BMI≥۲۵), respectively.  An association was observed between the CC genotype of the rs۸۰۶۸۳۱۸ polymorphism of the TBX۲ gene with the risk of developing PE in women with PE (OR=۲.۱۲, ۹۵%CI: ۱.۱۴-۳.۹۲, P=۰.۰۲). In addition, there was an association between the rs۸۰۶۸۳۱۸ TBX۲ polymorphic locus with lower SBP (Me=۱۴۰, Q۲۵ – Q۷۵ ۱۳۰ – ۱۴۲.۵, P=۰.۰۱) and PBP (Me=۵۰, Q۲۵ – Q۷۵ ۴۰ – ۵۵, P<۰.۰۱). According to the GeneCards database, the TBX۲ gene, a member of a phylogenetically conserved gene family, is located on the long arm of chromosome ۱۷ and encodes the TBX۲ T-box transcription factor protein, which is a regulator of the transcriptional activity of various genes (i.e., it suppresses the expression of CDKN۲A (p۱۹/ARF), inhibits cyclin-dependent kinase p۲۱ Cip۱ (CDKN۱A), and affects the expression of MYC, RAS, BRCA۱, and BRCA۲ genes).

Keywords:

Edema , Preeclampsia , Polymorphic locus , Proteinuria , rs۱۰۴۲۸۳۸ PGR , rs۸۰۶۸۳۱۸ , TBX۲