Immunogenetic Aspects of Idiopathic Recurrent Pregnancy Loss in the Kazakh Population.

Abstract

Objective: To investigate the population-specific features of immune response gene polymorphisms, including IFNG (rs2069727), IL1B (rs1143634), IL6 (rs1800796), IL10 (rs1800896), CX3CR1 (rs3732379), and CTLA4 (rs3087243), which are associated with the development of idiopathic recurrent pregnancy loss (iRPL) in an ethnically homogeneous Kazakh population. Additionally, to conduct a comparative analysis with previously studied global populations. Methods: Genomic database analysis was performed using genotyping data from 1,900 conditionally healthy Kazakh individuals, covering approximately 2.5 million SNPs. The data were obtained using OmniChip 2.5M Illumina arrays at the DECODE Genomics Center in Iceland as part of the collaborative “Genetic Studies of Preeclampsia in Central Asian and European Populations” (InterPregGen) project, funded by the 7th Framework Program of the European Commission (Grant Agreement No. 282540). Results: The study reveals significant inter-population diversity in the minor allele frequencies (MAFs) of the analyzed SNPs. East Asian populations exhibit the most distinct differences compared to European and Kazakh populations, likely due to genetic isolation and historical migration processes. Conclusion: The genome-wide analysis has guided the selection of pro- and anti-inflammatory immune system gene polymorphisms for further replication genotyping in Kazakh women with iRPL. The obtained results will serve as a foundation for developing effective early diagnostic methods for idiopathic recurrent pregnancy loss.