Lazaros Leandros, Fotaki Anthi, Pamporaki Christina, Hatzi Elissavet, Kitsou Chrysoula, Zikopoulos Athanasios, Virgiliou Christina, Kosmas Ioannis, Bouba Ioanna, Stefos Theodoros, Theodoridis Georgios, Georgiou Ioannis
a Medical Genetics and Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Ioannina University Hospital , Ioannina , Greece.
b Laboratory of Medical Genetics of Human Reproduction , Medical School, Ioannina University , Ioannina , Greece.
Gynecol Endocrinol. 2016 Aug;32(8):641-645. doi: 10.3109/09513590.2016.1149810. Epub 2016 Mar 2.
The aim of the current study was to explore whether anti-Müllerian hormone receptor II (AMHRII) genetic variants influence the hormonal profile and the ovarian response to standard gonadotropin stimulation of women undergoing medically assisted reproduction. Three hundred in vitro fertilization or intracytoplasmic sperm injection patients constituted the study population, while 300 women with at least one spontaneous pregnancy participated as controls. The follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E) and AMH levels were determined at the third day of the menstrual cycle. AMHRII 10A > G (rs11170555), 1749C > T (rs2071558) and -482A > G (rs2002555) polymorphisms were genotyped. The follicle and oocyte numbers, the follicle size and the clinical pregnancies were recorded. Regarding the AMHRII 1749C > T polymorphism, 1749CT women presented with higher total follicle and small follicle numbers compared to 1749CC women (p = 0.04 and p = 0.01, respectively). Whereas, as concerns the -482A > G polymorphism, -482AG women were characterized by higher total follicle and small follicle numbers comparing with -482AA women (p = 0.07 and p = 0.004, respectively). Finally, -482AG women presented with increased FSH levels compared to -482AA women (p < 0.05). However, no associations of AMHRII gene polymorphisms with serum AMH levels or clinical pregnancy rates were observed. AMHRII 1749C > T and -482A > G genetic variants were associated with the ovarian response to standard gonadotropin stimulation, affecting mainly the follicular growth.
本研究的目的是探讨抗苗勒管激素受体II（AMHRII）基因变异是否会影响接受医学辅助生殖的女性的激素水平以及卵巢对标准促性腺激素刺激的反应。300例体外受精或卵胞浆内单精子注射患者构成研究人群，300例至少有一次自然妊娠的女性作为对照。在月经周期的第三天测定促卵泡生成素（FSH）、促黄体生成素（LH）、雌二醇（E）和抗苗勒管激素（AMH）水平。对AMHRII 10A＞G（rs11170555）、1749C＞T（rs2071558）和-482A＞G（rs2002555）多态性进行基因分型。记录卵泡和卵母细胞数量、卵泡大小及临床妊娠情况。关于AMHRII 1749C＞T多态性，与1749CC女性相比，1749CT女性的总卵泡数和小卵泡数更高（分别为p = 0.04和p = 0.01）。而对于-482A＞G多态性，与-482AA女性相比，-482AG女性的总卵泡数和小卵泡数更高（分别为p = 0.07和p = 0.004）。最后，与-482AA女性相比，-482AG女性的FSH水平升高（p＜0.05）。然而，未观察到AMHRII基因多态性与血清AMH水平或临床妊娠率之间存在关联。AMHRII 1749C＞T和-482A＞G基因变异与卵巢对标准促性腺激素刺激的反应有关，主要影响卵泡生长。
