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Results of Targeted Sequencing of PRL, PRLR, and PRLHR Genes in Young Women with Nonneoplastic Hyperprolactinemia

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Abstract

The goal of the study was exploring the range of variants of the PRL, PRLR, and PRLHR genes in women of reproductive age with nontumor hyperprolactinemia. In women with hyperprolactinemia of nontumor origin (n = 15) targeted high throughput sequencing of PRL, PRLR, and PRLHR genes was performed. The targeted panel of genes included coding regions and adjacent splicing sites. Analysis of the PRL, PRLR, and PRLHR genes revealed a number of rare and common variants. In the PRL gene, the common variant rs1205955 was identified (MAF А = 0.279). For the PRLR gene, the rare variant rs185353023 was identified in the 3'UTR (MAF A/C = 0.003) and 12 common variants were detected. For the PRLHR gene, ten common variants were identified. The maximum number of variants was localized in the 3'UTR region and introns. For the first time in Russia, targeted high throughput sequencing of the PRL, PRLR, and PRLHR genes was performed, according to the results of which no obvious pathological variants were revealed in the studied genes in women with an increased content of nonneoplastic prolactin. The discovered polymorphism in these genes allows further study of its association with impaired function of the prolactin component of hormonal regulation.

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Funding

The work was carried out within the framework of a state order to the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences (reg. no. 122031700094-5 “Epidemiological Monitoring of the Health Status of the Population and the Study of Molecular-Genetic and Molecular-Biological Mechanisms for the Development of Common Therapeutic Diseases in Siberia to Improve diagnosis, Prevention, and Treatment”).

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Authors and Affiliations

  1. Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, 630090, Novosibirsk, Russia

    E. V. Shakhtshneider, D. E. Ivanoshchuk & S. M. Voevoda

  2. Research Institute of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, 630089, Novosibirsk, Russia

    E. V. Shakhtshneider, D. E. Ivanoshchuk, S. M. Voevoda & O. D. Rymar

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  1. E. V. Shakhtshneider
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  2. D. E. Ivanoshchuk
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Correspondence to S. M. Voevoda.

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Conflict of interest. The authors declare that they have no conflicts of interest.

Statement of compliance with standards of research involving humans as subjects. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants involved in the study. The study was approved by the local ethics committee of the Research Institute of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences, protocol no. 10 dated February 25, 2014. All examined patients signed an informed consent.

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Translated by V. Mittova

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Shakhtshneider, E.V., Ivanoshchuk, D.E., Voevoda, S.M. et al. Results of Targeted Sequencing of PRL, PRLR, and PRLHR Genes in Young Women with Nonneoplastic Hyperprolactinemia. Cell Tiss. Biol. 17, 292–298 (2023). https://doi.org/10.1134/S1990519X23030124

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