ERVW-1 gene polymorphisms related to preeclampsia

• Published in: Bratislavské lékarské listy Vol. 117; no. 6; pp. 340 - 344
• Main Authors: Priscakova, P, Konkolova, J, Petrovic, R, Lipov, J, Minarik, G, Bohmer, D, Repiska, V, Gbelcova, H
• Format: Journal Article
• Language: English
• Published: Slovakia 2016
• Subjects: Aborted Fetus - metabolism; Case-Control Studies; Female; Gene Products, env - genetics; Genetic Predisposition to Disease; Humans; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Pre-Eclampsia - genetics; Pregnancy; Pregnancy Proteins - genetics; Slovakia; ERVW-1; DNA polymorphisms; diagnostics; syncytin 1; Preeclampsia
• ISSN: 0006-9248
• DOI: 10.4149/BLL_2016_067

Identification of genetic association between the gene ERVW-1 and preeclampsia. Preeclampsia is a multifactorial disease affecting women during pregnancy and it is one of the main causes of perinatal and maternal morbidity and mortality. The pathophysiology of preeclampsia is very complex and several aspects of the disease have not been elucidated yet. Abnormal placentation frequently occurs during severe preeclampsia. Protein syncytin 1, a product of the ERVW-1 gene, plays a crucial role in the syncytiotrophoblast differentiation and optimal placentation. The syncytin 1 expression is disturbed during preeclampsia. The main focus of this study was the analysis of the ERVW-1 regulatory regions and identification of DNA polymorphisms associated with preeclamptic cases in Slovak population. Regulatory region of gene ERVW-1 was analyzed by sequencing to identify genetic variants. We identified four DNA variants, namely rs4727276, rs148592540, rs569899772 and rs555416193, in samples of Slovak population. No relation between polymorphisms and preeclampsia was observed, indicating that further investigations with a larger sampling are still required. However, our work represents new original approach in genetic differential diagnosis of preeclampsia with possible useful findings in the future (Tab. 3, Fig. 1, Ref. 34).