Department of Biochemistry, Faculty of Pharmacy, Cairo University, Giza, Egypt.
Obstetrics and Gynaecology Department, Cairo University, Giza, Egypt.
J Assist Reprod Genet. 2017 Dec;34(12):1659-1666. doi: 10.1007/s10815-017-1013-4. Epub 2017 Aug 19.
The aim of this study is to assess the role of AMH in prediction of poor ovarian response as well as the relation between ESR (+ 1730G>A) (rs4986938) and FSHR p.ThrAla (c.919A>G, rs6165) SNPs and the poor ovarian response in Egyptian women undergoing IVF procedure. Discovering the genetic variants associated with ovarian response is an important step towards individualized pharmacogenetic protocols of ovarian stimulation.
We performed a prospective study on 216 young women with unexplained infertility. Ovarian stimulation was performed according to the GnRH antagonist protocol with a fixed daily morning dose of human menopausal gonadotrophin (HMG). The estrogen receptor (ESR2) (+ 1730G>A) (rs4986938) and FSH receptor p.Thr307Ala (c.919A>G, rs6165) single nucleotide polymorphisms (SNPs) were detected by real-time polymerase chain reaction. Serum FSH, Estradiol (E2) and anti-Müllerian hormone (AMH) levels were measured by enzyme-linked immunosorbent assay (ELISA).
This study revealed that the low AMH level was highly significantly related to the poor ovarian response (p < 0.001). Furthermore, the frequency of the ESR2 (AA) genotype and the FSHR (AlaAla) genotypes were highly significantly associated with the poor ovarian response (p < 0.001).
The AMH level in combination with the ESR2 and the FSHR gene polymorphisms predict the poor ovarian response to COH in Egyptian women.
ClinicalTrials.gov Identifier: NCT02640976.
本研究旨在评估 AMH 在预测卵巢反应不良中的作用，以及 ESR2（+1730G>A）（rs4986938）和 FSHR p.ThrAla（c.919A>G，rs6165）SNP 与埃及妇女接受 IVF 过程中卵巢反应不良之间的关系。发现与卵巢反应相关的遗传变异是朝着卵巢刺激的个体化遗传药理学方案迈出的重要一步。
我们对 216 名不明原因不孕的年轻女性进行了前瞻性研究。根据 GnRH 拮抗剂方案进行卵巢刺激，每天早晨给予固定剂量的人绝经期促性腺激素（HMG）。采用实时聚合酶链反应检测雌激素受体（ESR2）（+1730G>A）（rs4986938）和促卵泡激素受体 p.Thr307Ala（c.919A>G，rs6165）单核苷酸多态性（SNP）。采用酶联免疫吸附试验（ELISA）检测血清 FSH、雌二醇（E2）和抗苗勒管激素（AMH）水平。
本研究表明，低 AMH 水平与卵巢反应不良高度相关（p<0.001）。此外，ESR2（AA）基因型和 FSHR（AlaAla）基因型的频率与卵巢反应不良高度相关（p<0.001）。
AMH 水平结合 ESR2 和 FSHR 基因多态性可预测埃及妇女 COH 的卵巢反应不良。
ClinicalTrials.gov 标识符：NCT02640976。
