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罗马尼亚人群中卵巢储备标志物的促卵泡激素受体基因多态性

Follicle-stimulating hormone receptor gene polymorphisms of ovarian reserve markers in Romanian population.

作者信息

Tănase Adina-Elena, Nemescu Dragos, Popescu Roxana, Carauleanu Alexandru, Mogos Raluca Anamaria, Luca Alexandru, Onofriescu Mircea

机构信息

Department of Obstetrics and Gynecology, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania.

Department of Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania.

出版信息

Exp Ther Med. 2020 Dec;20(6):203. doi: 10.3892/etm.2020.9333. Epub 2020 Oct 14.

Abstract

Association between phenotype and follicle-stimulating hormone (FSH) receptor and FSH beta chain genotype was evaluated in women with ovarian dysfunction. FSH receptor gene single nucleotide polymorphisms (SNPs) were analyzed by restricted fragment length polymorphism (RFLP) technique. Three groups were analyzed: two groups formed of poor responders (women with ovarian dysfunctions caused by endometriosis and patients who underwent ovarian stimulation protocols) and a third good responders group (normal-ovulatory women who gave birth to naturally conceived children). A higher average level of basal FSH values were found in mutants in the A919G/Ala307Thr/rs6165 or A2039G/Asn680Ser/rs6166 tests (7.16±1.09; P=0.659). Anti-mullerian hormone (AMH) below 1.2 ng/ml was associated with a higher frequency of mutations: 33.3% A919G/Ala307Thr and A2039G/Asn680Ser (P=0.137) and also in 66.6% FSH receptor less frequent polymorphism (c.-29G>A) rs 1394205 (P=0.522). The age, day 3 FSH, and AMH levels are widely used to investigate female infertility. However, we have not yet found the ideal biomarker to determine the best outcome and treatment plan for our patients. We cconsider that genetic markers will become the future in the personalization of controlled ovarian stimulation treatment in the upcoming period.

摘要

在卵巢功能障碍女性中评估了表型与促卵泡激素(FSH)受体及FSHβ链基因型之间的关联。采用限制性片段长度多态性(RFLP)技术分析FSH受体基因单核苷酸多态性(SNP)。分析了三组:两组由反应不良者组成(因子宫内膜异位症导致卵巢功能障碍的女性和接受卵巢刺激方案的患者),第三组为反应良好者组(自然受孕分娩的正常排卵女性)。在A919G/Ala307Thr/rs6165或A2039G/Asn680Ser/rs6166检测中的突变体中发现基础FSH值的平均水平较高(7.16±1.09;P = 0.659)。抗苗勒管激素(AMH)低于1.2 ng/ml与较高的突变频率相关:A919G/Ala307Thr和A2039G/Asn680Ser为33.3%(P = 0.137),在FSH受体较罕见的多态性(c.-29G>A)rs 1394205中也为66.6%(P = 0.522)。年龄、第3天FSH和AMH水平被广泛用于研究女性不孕症。然而,我们尚未找到理想的生物标志物来确定患者的最佳治疗结果和治疗方案。我们认为基因标志物将在未来一段时间内成为控制性卵巢刺激治疗个体化的发展方向。

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