Genetic origins of recurrent miscarriage: A review of the literature

Abstract

Currently, recurrent miscarriage is considered a polygenic multifactorial disease, that is, a condition in which the predisposition to miscarriage is related to various genetic factors. The realization of these factors depends largely on the environment. This paper analyzes the current world literature on the effect of single-nucleotide polymorphisms of genes associated with recurrent miscarriage. The literature review summarized data from recent meta-analyses regarding the association between recurrent miscarriage and genetic polymorphisms leading to endothelial dysfunction (vascular endothelial growth factor A gene and endothelial NO synthase genes), hereditary thrombophilia (Leiden mutation and polymorphisms in the methylene tetrahydrofolate reductase gene), immunological disorders (cytokine genes, including interleukin-1 beta, interleukin-6, and tumor necrosis factor alpha), altered receptor interactions in the endometrium (progesterone receptor and ESR1 and ESR2 estrogen receptor genes), and imbalance between lipoproteins of different densities (apolipoprotein E gene). The study of genetic predisposition to miscarriage is necessary to identify high-risk cases, initiate timely and careful monitoring, and develop personalized preventive techniques.