The effect of the CYP1A1 gene polymorphisms of the first phase of the xenobiotic biotransformation system in combination with a high anthropogenic load on the development of “great obstetrical syndromes” and congenital malformations

Introduction. The perinatal period largely determines the state of human health throughout his subsequent life. Congenital malformations and pathological states combined under the common term “great obstetrical syndromes” (preeclampsia, premature birth, death of the fetal egg or delay in its development) make a significant contribution to infant mortality, affecting the demographic situation. The frequency of these pathologies increases in the regions with high anthropogenic load.Materials and methods. A survey of one hundred thirty one pregnant woman lived in Novokuznetsk was conducted. Out of 93 examined women with “great obstetrical syndromes” there were 39 women with preeclampsia, 16 ones with intrauterine fetal growth retardation, 38 women who gave birth to premature babies. 11 women who gave birth to babies with congenital malformations and 27 women with a standard pregnancy. Using the polymerase chain reaction method, variants of the CYP1A1*2A gene of the first phase of the xenobiotic biotransformation system were identified in all subjects examined.Results. The AG genotype of the CYP1A1*2A (rs4646903) gene was shown to be reliably associated with the development of “great obstetrical syndromes”: intrauterine growth retardation (χ2 = 10.64; OR = 20.22), prematurity (χ2 = 6.68; OR = 10.59), preeclampsia (χ2 = 3.04; OR = 5.69) – and congenital malformations of the fetus (χ2 = 7.3; OR = 14.86). No connection was found between the AA genotype and these pathologies.Limitation. The study was of a pilot nature, so it is advisable to increase the sample.Conclusion. The identified genotypes can be considered as markers of reproductive disorders and used in assessing individual predisposition to the development of “great obstetrical syndromes” and congenital malformations in planning and clinical pregnancy care in women living in ecologically unfavourable regions.Compliance with ethical standards. The study was approved by the local Ethics Committee of the Federal State Budgetary Scientific Institution “Research Institute for Complex Problems of Hygiene and Occupational Diseases” (Protocol of the Meeting № 3, § 2 dated November 17, 2022) conducted in accordance with the generally accepted scientific principles of the Declaration of Helsinki of the World Medical Association “Ethical Principles for Medical Research Involving Human Subjects” as amended 2013. All participants gave informed voluntary written consent to participate in the study.Contribution: Gulyaeva O.N. – concept and design of the study, collection and processing of material, statistical processing, editing; Ulanova E.V., Zagorodnikova O.A., Zoteeva A.I. – collection and processing of material; Zhukova A.G. – concept of the study, editing; Renge L.V. – concept of the study, editing. All co-authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version.Conflict of interest. The authors declare no conflict of interest.Acknowledgement. The study had no sponsorship.Received: December 27, 2024 / Revised: February 20, 2025 / Accepted: March 26, 2025 / Published: April 30, 2025

xenobiotic biotransformation system, congenital malformations, preeclampsia, intrauterine growth retardation, premature baby, CYP1A1 gene polymorphism, industrial region