INSERM, US14-Orphanet, Paris, 75014, France.
Division of Endocrinology, Department of Medicine, Creighton University School of Medicine, Omaha, NE, 68124, USA.
J Ovarian Res. 2023 Nov 22;16(1):222. doi: 10.1186/s13048-023-01280-5.
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.
催乳素受体基因(PRLR)可能与多囊卵巢综合征(PCOS)有关,因为它在卵巢的生理功能中发挥着重要作用。催乳素受体基因敲除小鼠的周期不规律,且存在生育能力低下的问题,人类 PRLR 基因或其周围的变异与女性的睾酮水平和复发性流产有关。我们在 212 个意大利家系中检测了 PRLR 基因中的 40 个变异,这些家系的表型为 2 型糖尿病(T2D)和 PCOS,发现两个内含子 PRLR 变异(rs13436213 和 rs1604428)与 PCOS 的风险显著相关和/或相关。这是第一个报道 PRLR 是 PCOS 的新风险基因的研究。需要进行功能研究来证实这些结果。