血管加压素受体基因（AVPR1A 和 AVPR1B）在多囊卵巢综合征易感性中的作用。
Implication of vasopressin receptor genes (AVPR1A and AVPR1B) in the susceptibility to polycystic ovary syndrome.
机构信息
Division of Endocrinology, Department of Medicine, Creighton University School of Medicine, Omaha, NE, 68124, USA.
Department of Public Health Sciences, Penn State College of Medicine, Hershey, PA, 17033, USA.
出版信息
J Ovarian Res. 2024 Nov 5;17(1):214. doi: 10.1186/s13048-024-01515-z.
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.
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），也称为抗利尿激素（ADH），通过与两个中枢和外周受体（AVPR1A 和 AVPR1B）结合，调节葡萄糖稳态、胰岛素敏感性和脂代谢等代谢功能。在本研究中，我们旨在检测 AVPR1A 和 AVPR1B 基因是否与 PCOS 相关。
方法
在意大利半岛的家庭中，我们通过拟等位基因进行连锁和连锁联合关联（即连锁不平衡）检测 AVPR1B 基因中的 7 个变体和 AVPR1A 基因中的 2 个变体与 PCOS 的关系。
结果
我们在每个基因中都发现了两个风险变体，与 PCOS 的风险显著相关。
结论
据我们所知，这是首次报道 AVPR1A 和 AVPR1B 基因中的风险变体与 PCOS 相关的研究。然而，需要在其他种族群体中进行复制和功能研究来证实这些结果。
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