The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome

The prolactin receptor gene (PRLR) may contribute to polycystic ovarian syndrome (PCOS) since it plays important roles in physiological ovarian functions. PRLR-knockout mice have irregular cycles and subfertility and variants in or around the PRLR gene were associated in humans with female testoster...

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Autores principales: Amin, Mutaz, Gragnoli, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664635/
https://www.ncbi.nlm.nih.gov/pubmed/37993904
http://dx.doi.org/10.1186/s13048-023-01280-5
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author Amin, Mutaz
Gragnoli, Claudia
author_facet Amin, Mutaz
Gragnoli, Claudia
author_sort Amin, Mutaz
collection PubMed
description The prolactin receptor gene (PRLR) may contribute to polycystic ovarian syndrome (PCOS) since it plays important roles in physiological ovarian functions. PRLR-knockout mice have irregular cycles and subfertility and variants in or around the PRLR gene were associated in humans with female testosterone levels and recurrent miscarriage. We tested 40 variants in the PRLR gene in 212 Italian families phenotyped by type 2 diabetes (T2D) and PCOS and found two intronic PRLR-variants (rs13436213 and rs1604428) significantly linked to and/or associated with the risk of PCOS. This is the first study to report PRLR as a novel risk gene in PCOS. Functional studies are needed to confirm these results.
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spelling pubmed-106646352023-11-22 The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome Amin, Mutaz Gragnoli, Claudia J Ovarian Res Brief Report The prolactin receptor gene (PRLR) may contribute to polycystic ovarian syndrome (PCOS) since it plays important roles in physiological ovarian functions. PRLR-knockout mice have irregular cycles and subfertility and variants in or around the PRLR gene were associated in humans with female testosterone levels and recurrent miscarriage. We tested 40 variants in the PRLR gene in 212 Italian families phenotyped by type 2 diabetes (T2D) and PCOS and found two intronic PRLR-variants (rs13436213 and rs1604428) significantly linked to and/or associated with the risk of PCOS. This is the first study to report PRLR as a novel risk gene in PCOS. Functional studies are needed to confirm these results. BioMed Central 2023-11-22 /pmc/articles/PMC10664635/ /pubmed/37993904 http://dx.doi.org/10.1186/s13048-023-01280-5 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Brief Report
Amin, Mutaz
Gragnoli, Claudia
The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome
title The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome
title_full The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome
title_fullStr The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome
title_full_unstemmed The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome
title_short The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome
title_sort prolactin receptor gene (prlr) is linked and associated with the risk of polycystic ovarian syndrome
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664635/
https://www.ncbi.nlm.nih.gov/pubmed/37993904
http://dx.doi.org/10.1186/s13048-023-01280-5
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