Genetic factors of early termination of pregnancy

Abstract

Pregnancy loss and premature delivery are combined by the definition Premature Termination of Pregnancy, while these conditions affect up to 5% of women of reproductive age. In some cases, genetic components are both etiologic and pathogenetic factors of premature birth, however, This challenge is further complicated by the fact that extensive population-based genetic studies and subsequent validation of the data are required, especially in multi-ethnic populations. Genome-wide studies will demonstrate polymorphic variants of hundreds of genes that are candidates for being associated with termination of pregnancy, including those regulating embryo implantation, pregnancy support, and immune system response. The review provides information about the genes and genetic polymorphisms that are involved in the regulation of the female reproductive system and associated with premature birth. A special role in the genetic mechanisms of miscarriage and/or preterm birth belongs to steroid hormone receptors, enzymes of the arachidonic acid metabolism, pro- and anti-inflammatory cytokines. However, the infectious factor takes the first place as a leading one, forming cause-and-effect relationships in the chain of pathogenetic links or giving modality to other factors. Most often, it is genetic polymorphisms associated with an over-activity of the immune system that underlie premature termination of pregnancy. Subsequent Investigation of the human genome, epigenome, and transcriptome helps to identify molecular mechanisms linked with preterm delivery and premature newborn clinical appearance in early and late neonatal life and even predict developmental outcomes. These data could be used to develop targeted interventions aimed at selecting the most effective individual treatment and rehabilitation plan. The data obtained in future studies could be used to develop for preconception care, targeted therapy and the most effective individual treatment plan. Keywords: genetic polymorphism; miscarriage; over-active immune responses; premature birth; premature termination of pregnancy; transcriptome.