Implication of vasopressin receptor genes (AVPR1A and AVPR1B) in the susceptibility to polycystic ovary syndrome.

IF 3.8 3区医学 Q1 REPRODUCTIVE BIOLOGY Journal of Ovarian Research Pub Date : 2024-11-05 DOI:10.1186/s13048-024-01515-z

Pruthvi Goparaju, Claudia Gragnoli

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Abstract

Background: Polycystic ovary syndrome (PCOS) is a complex heterogenous disorder manifesting with various reproductive, endocrine, and metabolic derangements such as insulin resistance and hyperglycemia. The arginine vasopressin peptide (AVP), also called or antidiuretic hormone (ADH), modulates metabolic functions such as glucose hemostasis, insulin sensitivity, and lipid metabolism via binding to two central and peripheral receptors (AVPR1A and AVPR1B). In the present study, we aimed to detect whether the AVPR1A and AVPR1B genes confer risk for PCOS.

Methods: In peninsular Italian families, we tested 7 variants in the AVPR1B gene and 2 variants in the AVPR1A gene via Pseudomarker for linkage and linkage joint to association (i.e.., linkage disequilibrium) with PCOS.

Results: We identified two risk variants in each gene, significantly associated with the risk of PCOS.

Conclusion: To the best of our knowledge, this is the first study to report risk variants in AVPR1A and AVPR1B genes in association with PCOS. However, replication in other ethnic groups as well as functional studies are needed to confirm these results.

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血管加压素受体基因（AVPR1A 和 AVPR1B）对多囊卵巢综合征易感性的影响。

背景：多囊卵巢综合征（PCOS）是一种复杂的异质性疾病，表现为各种生殖、内分泌和代谢紊乱，如胰岛素抵抗和高血糖。精氨酸加压素肽（AVP）又称抗利尿激素（ADH），通过与两种中枢和外周受体（AVPR1A 和 AVPR1B）结合，调节葡萄糖止血、胰岛素敏感性和脂质代谢等代谢功能。在本研究中，我们旨在检测 AVPR1A 和 AVPR1B 基因是否会导致多囊卵巢综合征的风险：在意大利半岛家庭中，我们通过 Pseudomarker 检测了 AVPR1B 基因中的 7 个变异体和 AVPR1A 基因中的 2 个变异体与多囊卵巢综合征的关联性和关联联合性（即关联不平衡）：结果：我们在每个基因中发现了两个与多囊卵巢综合症风险显著相关的风险变异：据我们所知，这是第一项报告 AVPR1A 和 AVPR1B 基因风险变异与多囊卵巢综合症相关性的研究。然而，要证实这些结果，还需要在其他种族群体中进行复制和功能研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Ovarian Research REPRODUCTIVE BIOLOGY-

CiteScore

6.20

自引率

2.50%

发文量

125

审稿时长

>12 weeks

期刊介绍： Journal of Ovarian Research is an open access, peer reviewed, online journal that aims to provide a forum for high-quality basic and clinical research on ovarian function, abnormalities, and cancer. The journal focuses on research that provides new insights into ovarian functions as well as prevention and treatment of diseases afflicting the organ. Topical areas include, but are not restricted to: Ovary development, hormone secretion and regulation Follicle growth and ovulation Infertility and Polycystic ovarian syndrome Regulation of pituitary and other biological functions by ovarian hormones Ovarian cancer, its prevention, diagnosis and treatment Drug development and screening Role of stem cells in ovary development and function.