BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve

• Published in: Journal of assisted reproduction and genetics 2024-09, Vol.41 (9), p.2279-2288
• Main Authors: Furtado, Cristiana Libardi Miranda, Soares, Murilo Racy, Verruma, Carolina Gennari, de Oliveira Gennaro, Flavia Gaona, da Silva, Lilian Eslaine Costa Mendes, Ferriani, Rui Alberto, dos Reis, Rosana Maria
• Format: Article
• Language: English
• Subjects: Copy number; Follicle-stimulating hormone; Folliculogenesis; Gene set enrichment analysis; Genetics; Gynecology; Human Genetics; Medicine; Medicine & Public Health; Metaphase; Oocytes; Ovaries; Reproductive Medicine
• ISSN: 1058-0468; 1573-7330; 1573-7330
• DOI: 10.1007/s10815-024-03185-8

Purpose To analyze the copy number variation (CNV) in the X-linked genes BCORL1 , POF1B , and USP9X in idiopathic diminished ovarian reserve (DOR). Methods 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. Results 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