Accepted_test

GWAS-significant loci and risk of uterine fibroids in the population of Central Russia

by Ponomareva Lyubov | Babkina Maryana | Kobzeva Ksenia | Bushueva Olga | Department of obstetrics and gynecology, Institute of Continuing Education, Kursk State Medical Uni-versity, 305041 Kursk, Russia | Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 305041 Kursk, Russia | Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 305041 Kursk, Russia | Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 305041 Kursk, Russia; Department of Biology, Medical Genetics and Ecology, Kursk State Medical University, 305041 Kursk, Russia

Abstract ID: 528

Event: BGRS-abstracts

Sections: [Sym 4] Section “Human population genomics/genetics”

This study delves into the pressing issue of uterine fibroids (UF), a prevalent gynecological concern affecting a significant portion of women. With UF diagnosis occurring at increasingly younger ages and impacting fertility, understanding the genetic factors influencing UF susceptibility is paramount. Leveraging data from previous genome-wide association studies (GWAS), the research scrutinizes the association between GWAS-significant single nucleotide polymorphisms (SNPs) and UF risk in the Central Russian population. Through meticulous analysis of DNA samples from UF patients and healthy individuals, the study identifies a compelling link between the rs547025 SIRT3 polymorphism and reduced UF risk. Further investigation unveils the epigenetic regulatory potential of rs547025 SIRT3, shedding light on its influence on gene expression and potential pathways in UF development. By establishing the pivotal role of rs547025 SIRT3 in UF susceptibility, this study paves the way for the integration of predictive genetic markers into clinical practice, enabling early identification and intervention in UF cases.