Department of Gynecology and Obstetrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Graduate Program in Medical Sciences, Experimental Biology Center, University of Fortaleza, Fortaleza, Ceará, Brazil.
J Assist Reprod Genet. 2024 Sep;41(9):2279-2288. doi: 10.1007/s10815-024-03185-8. Epub 2024 Jul 12.
To analyze the copy number variation (CNV) in the X-linked genes BCORL1, POF1B, and USP9X in idiopathic diminished ovarian reserve (DOR).
This case-control study included 47 women, 26 with DOR and 21 in the control group. Age, weight, height, BMI, and FSH level were evaluated, as well as antral follicle count (AFC), oocyte retrieval after controlled ovarian stimulation, and metaphase II (MII) oocytes. The CNVs of BCORL1, USP9X, and POF1B genes were measured by quantitative real time PCR (qPCR) using two reference genes, the HPRT1 (X-linked) and MFN2 (autosomal). Protein-protein interaction network and functional enrichment analysis were performed using the STRING database.
The mean age was 36.52 ± 4.75 in DOR women and 35.38 ± 4.14 in control. Anthropometric measures did not differ between the DOR and control groups. DOR women presented higher FSH (p = 0.0025) and lower AFC (p < .0001), oocyte retrieval after COS (p = 0.0004), and MII oocytes (p < .0001) when compared to the control group. BCORL1 and POF1B did not differ in copy number between DOR and control. However, DOR women had more copies of USP9X than the control group (p = 0.028).
The increase in the number of copies of the USP9X gene may lead to overexpression in idiopathic DOR and contribute to altered folliculogenesis and oocyte retrieval.
分析特发性卵巢储备功能减退（DOR）患者 X 连锁基因 BCORL1、POF1B 和 USP9X 的拷贝数变异（CNV）。
本病例对照研究纳入了 47 名女性，其中 26 名 DOR 患者，21 名对照组。评估了年龄、体重、身高、BMI 和 FSH 水平，以及经控制性卵巢刺激后的窦卵泡计数（AFC）、卵母细胞采集和中期 II（MII）卵母细胞。使用两个参考基因 HPRT1（X 连锁）和 MFN2（常染色体），通过定量实时 PCR（qPCR）测量 BCORL1、USP9X 和 POF1B 基因的 CNV。使用 STRING 数据库进行蛋白质-蛋白质相互作用网络和功能富集分析。
DOR 组女性的平均年龄为 36.52±4.75 岁，对照组为 35.38±4.14 岁。DOR 组和对照组的人体测量指标无差异。与对照组相比，DOR 组女性的 FSH 更高（p=0.0025），AFC 更低（p<.0001）、COS 后卵母细胞采集（p=0.0004）和 MII 卵母细胞更少（p<.0001）。DOR 和对照组之间 BCORL1 和 POF1B 的拷贝数没有差异。然而，DOR 组女性 USP9X 的拷贝数多于对照组（p=0.028）。
USP9X 基因拷贝数的增加可能导致特发性 DOR 中的过表达，并导致卵泡发生和卵母细胞采集改变。
