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The prolactin receptor () gene is linked to and associated with the comorbidity of depression and type 2 diabetes in Italian families.催乳素受体()基因与意大利家庭中抑郁症和2型糖尿病的合并症相关联。
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Prolactin Level in Polycystic Ovary Syndrome (PCOS): An approach to the diagnosis and management.多囊卵巢综合征(PCOS)中的催乳素水平:诊断与管理方法。
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Constitutive expression of Steroidogenic factor-1 (NR5A1) disrupts ovarian functions, fertility, and metabolic homeostasis in female mice.固醇生成因子-1(NR5A1)的组成性表达会破坏雌性小鼠的卵巢功能、生育能力和代谢稳态。
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Using human genetics to understand the disease impacts of testosterone in men and women.利用人类遗传学了解睾酮对男性和女性疾病的影响。
Nat Med. 2020 Feb;26(2):252-258. doi: 10.1038/s41591-020-0751-5. Epub 2020 Feb 10.
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Association between prolactin receptor expression and proliferation in the endometrium of obese women with polycystic ovary syndrome.肥胖多囊卵巢综合征妇女的子宫内膜中催乳素受体表达与增殖的关系。
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New insights into human prolactin pathophysiology: genomics and beyond.对人类催乳素生理学的新认识:从基因组学到其他领域。
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Pancreatic prolactin receptor signaling regulates maternal glucose homeostasis.胰腺催乳素受体信号传导调节母体葡萄糖稳态。
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Depression and Anxiety in Polycystic Ovary Syndrome: Etiology and Treatment.多囊卵巢综合征中的抑郁和焦虑:病因与治疗。
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SNP2TFBS - a database of regulatory SNPs affecting predicted transcription factor binding site affinity.SNP2TFBS——一个影响预测转录因子结合位点亲和力的调控性单核苷酸多态性数据库。
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Insulin: pancreatic secretion and adipocyte regulation.胰岛素:胰腺分泌与脂肪细胞调节
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催乳素受体基因(PRLR)与多囊卵巢综合征的风险相关联。

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

机构信息

INSERM, US14-Orphanet, Paris, 75014, France.

Division of Endocrinology, Department of Medicine, Creighton University School of Medicine, Omaha, NE, 68124, USA.

出版信息

J Ovarian Res. 2023 Nov 22;16(1):222. doi: 10.1186/s13048-023-01280-5.

DOI:10.1186/s13048-023-01280-5
PMID:37993904
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10664635/
Abstract

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.

摘要

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。