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. 2024 Sep;41(9):2279-2288.
doi: 10.1007/s10815-024-03185-8. Epub 2024 Jul 12.

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

Cristiana Libardi Miranda Furtado #  1   2 , Murilo Racy Soares #  3 , Carolina Gennari Verruma  3 , Flavia Gaona de Oliveira Gennaro  3 , Lilian Eslaine Costa Mendes da Silva  4 , Rui Alberto Ferriani  3 , Rosana Maria Dos Reis  5
Affiliations

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

Cristiana Libardi Miranda Furtado et al. J Assist Reprod Genet. 2024 Sep.

Abstract

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 < .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).

Conclusion: 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.

Keywords: Copy number variation; Genomic instability; Aging; DOR; Ovarian failure.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Ideogram of human X chromosome the spatial localization of the BCORL1, POF1B, and USP9X genes. Modified from Ensemble (ensembl.org/index.html)
Fig. 2
Fig. 2
Copy number variation (CNV) in the DOR and control women. A CNVs in the BCORL1 gene. B CNVs in the POF1B gene. C CNVs in the USP9X gene. *p < 0.05
Fig. 3
Fig. 3
Spearman’s correlation using the qualitative variables age, FSH, AFC, BCORL1, POF1B, and USP9X. Positive correlations are represented by values near to 1, whereas the negative correlations are represented by values near to − 1
Fig. 4
Fig. 4
USP9X protein interaction network. The thickest lines represent stronger interactions, and the thinnest lines represent lower interactions
See this image and copyright information in PMC

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