Immunogenetic aspects of idiopathic recurrent miscarriage in the Kazakh population

Abstract

There are numerous scientific studies of recurrent miscarriage (RM) with possible causes, such as fetal chromosomal abnormalities, infectious agents, adverse environmental factors, bad habits, anatomical defects, thrombophilic disorders, etc. However, RM causes in 50% of cases remain unknown. These RM cases do not have any explainable etiology, and they require in-depth etiopathogenesis study, thus they are considered idiopathic RM. The purpose of this research is to study polymorphisms relationship of the immune response genes CX3CR1 (rs3732379, Val249Ile), CTLA4 (rs3087243, CT60 G/A), and HLA DQA1, DQB1, DRB1 (major histocompatibility complex, class II) with the idiopathic form of recurrent miscarriage (iRM) development in Kazakh population. Independent replicative TagMan genotyping for 302 patients with iRM and 300 women with normal reproduction was performed. It has been shown that carriage of unfavorable genotypes (Val/Ile, Val/Val) by the Val249Ile polymorphism of the CX3CR1 gene increases the risk of developing iRM by 1.43 times. Search for associations of genes allelic variants of HLA class 2 complex with iRM revealed *501 allele in DQA1 locus, *0301 in DQB1 locus, *10, *12, *15, *16 alleles in DRB1 locus, which increases the risk of developing iRM in Kazakh population with OR from 1.34 to 4.5. As a result of the study, obtained highly significant associations of immune response genes with the development of iRM in the Kazakh population indicate the possible involvement of the immune system interaction of mother cells with syncytiotrophoblast, which is realized by vascularization defects, defective embryo implantation, and leads to early pregnancies’ termination.

Establishment of a Unified Register of Donor Sexual Gametes in the Republic of Kazakhstan

“…The ethical issue of access to the register of donors and recipients of sexual gametes (DSG) raises important considerations regarding privacy, confidentiality, and accountability ( 22 ). While recipients may have a vested interest in accessing the register for various reasons, including concerns about genetic health and familial history, granting direct access to individuals may compromise the confidentiality and anonymity of donors ( 23 , 24 ). Social research on egg donors in Kazakhstan has highlighted the importance of maintaining donor confidentiality, with a significant percentage expressing a desire for complete anonymity.…”

The influence of environmental factors on the health of the population of the Aktobe region

“…Some of them have carcinogenic properties that significantly alter the course and outcome of acute and chronic diseases. Some properties disrupt the course of pregnancy and intrauterine development of the fetus and have a direct and side effect on human health (Gorelin & Konopelko, 1992; Svyatova et al, 2021).…”

The effectiveness of non-invasive prenatal test technology and the prenatal screening algorithm based on various methods for determining foetal aneuploidy

“…Thus, at present the high value of NIPT seems evident regarding screening for the most common foetal abnormalities: Down, Edwards, and Patau syndromes and aneuploidy of sex chromosomes ( 38 , 39 , 40 ). The outcomes of pregnancy when trisomy 21 or 18 is present is miscarriage, or the premature or term birth of a child with the corresponding syndrome, causing perinatal mortality and disability in highly developed countries ( 41 ). The selection of patients at risk for chromosomal abnormalities among all pregnant women is an indication for invasive diagnostic methods that can lead to fetal death, miscarriage, bleeding, or chorioamnionitis.…”