Polymorphic LHCGR gene loci associated with the development of uterine fibroids


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Abstract

Objective. To investigate the associations of the LHCGR polymorphism rs4374421, rs7579411, rs6729809, and rs4953616 with the development of uterine leiomyoma. Subjects and methods. The investigation enrolled 1265 women: 569 patients with uterine leiomyoma and 696 individuals in the control group. Four polymorphic loci (rs4374421, rs7579411, rs6729809, and rs4953616) of the LHCGR gene were genotyped. The associations of LHCGR gene polymorphism with the development of uterine leiomyomas, its regulatory potential, and impact on gene expression were studied. Results. The polymorphic loci rs4374421 and rs7579411 of the LHCGR gene were found to be associated with the development of uterine leiomyoma. The risk factors for the disease were the C/C genotype of rs7579411 (OR = 1.35) and TS haplotype of the polymorphic loci rs4374421-rs7579411 (OR = 1.21). The T allele (dominant model: OR=0.74) and the C/Tgenotype (OR = 0.80) rs7579411, as well as T/Cgenotype of rs4374421 (OR=0.78) are of protective value for the development of uterine leiomyoma. These polymorphic loci have a significant regulatory potential (are located in the region of histones that label promoters and enhancers in the culture cells, precursors of neurons and mesenchymal cells, etc., in the region of regulatory DNA motifs), and the polymorphism rs7579411 is associated with the expression level of the STON1- GTF2A1L gene in the thyroid gland. Conclusion. The LHCGR polymorphisms rs4374421 and rs7579411 are associated with the development of uterine leiomyoma.

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About the authors

Irina V. Ponomarenko

Belgorod State National Research University

Email: ponomarenko_i@bsu.edu.ru
MD, associate professor of the Department of Biomedical Disciplines of the Medical Institute

Alexey Valerevich Polonikov

Kursk State Medical University

Email: polonikovav@kursksmu.net
MD, Professor, Head of the Department of Biology, Medical Genetics and Ecology

Mikhail Ivanovich Churnosov

Belgorod State National Research University

Email: churnosov@bsu.edu.ru
MD, Professor, Head of the Department of Biomedical Disciplines Medical Faculty

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