Genome-wide studies of uterine leiomyomas

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Abstract

Objective: This review aimed to investigate published genome-wide studies of uterine leiomyomas (ULs) and identify significant polymorphism loci linked to this condition using genome-wide association studies (GWAS).

Materials and methods: Relevant publications were searched in electronic databases such as PubMed, PubMed Central, and E-library, as well as in the GWAS catalog from 2011 to the present, using keywords such as uterine leiomyomas, fibroids, GWAS studies, and candidate genes.

Results: The results revealed eight genome-wide analyses of ULs, which identified 34 GWAS-significant polymorphic loci associated with disease generation and progression. However, findings from GWAS replication studies are limited and ambiguous. Among the known GWAS-significant genes, it is important to note that 15 out of the 34 genes were associated with the disease in only one GWAS, emphasizing the need for further (replicative) studies to explore the role of these genes in the development of the disease. Additionally, exon sequencing has provided valuable insights into the involvement of certain genes, such as MED12, in the formation of uterine fibroids, thereby expanding our understanding of the genetic determinants of the disease.

Conclusion: This review highlights the major genome-wide studies of ULs, identifies GWAS-significant polymorphisms associated with the disease, and emphasizes the potential utilization of these data in future replicative research and the enhancement of our knowledge about the molecular genetic mechanisms underlying the development of uterine fibroids.

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About the authors

Ola M. Alali

Belgorod State National Research University

Author for correspondence.
Email: alaliola9@gmail.com
ORCID iD: 0000-0003-4370-6719

PhD student

Russian Federation, Belgorod

Mikhail I. Churnosov

Belgorod State National Research University

Email: churnosov@bsu.edu.ru
ORCID iD: 0000-0003-1254-6134

Dr. Med. Sci., Professor

Russian Federation, Belgorod

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