Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia.
Azoospermia
Copy number variation (CNV)
Karyotyping
Oligospermia
Journal
BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628
Informations de publication
Date de publication:
08 09 2023
08 09 2023
Historique:
received:
27
05
2023
accepted:
29
08
2023
medline:
11
9
2023
pubmed:
9
9
2023
entrez:
8
9
2023
Statut:
epublish
Résumé
Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated genes in patients. A total of 1157 azoospermia and oligospermia patients were recruited, of whom, 769 and 674 underwent next-generation sequencing (NGS) to identify CNVs and routine G-band karyotyping, respectively. First, 286 patients were co-analyzed using CNV sequencing (CNV-seq) and karyotyping. Of the 725 and 432 patients with azoospermia and oligospermia, 33.8% and 48.9% had abnormal karyotypes and CNVs, respectively. In particular, 47,XXY accounted for 44.18% and 26.33% of abnormal karyotypes and CNVs, respectively, representing the most frequent genetic aberration in azoospermia and oligospermia patients. Nevertheless, big Y and small Y accounted for 7.46% and 16.67% of abnormal karyotypes, respectively. We also identified high-frequency CNVs-loci, such as Xp22.31 and 2p24.3, in azoospermia and oligospermia patients. Sex chromosome and autosomal CNV loci, such as Xp22.31 and 2p24.3, as well as the associated genes, such as VCX and NACAP9, could be candidate spermatogenesis genes. The high-frequency abnormal karyotypes, CNV loci, and hot genes represent new targets for future research.
Sections du résumé
BACKGROUND
Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated genes in patients.
METHODS
A total of 1157 azoospermia and oligospermia patients were recruited, of whom, 769 and 674 underwent next-generation sequencing (NGS) to identify CNVs and routine G-band karyotyping, respectively.
RESULTS
First, 286 patients were co-analyzed using CNV sequencing (CNV-seq) and karyotyping. Of the 725 and 432 patients with azoospermia and oligospermia, 33.8% and 48.9% had abnormal karyotypes and CNVs, respectively. In particular, 47,XXY accounted for 44.18% and 26.33% of abnormal karyotypes and CNVs, respectively, representing the most frequent genetic aberration in azoospermia and oligospermia patients. Nevertheless, big Y and small Y accounted for 7.46% and 16.67% of abnormal karyotypes, respectively. We also identified high-frequency CNVs-loci, such as Xp22.31 and 2p24.3, in azoospermia and oligospermia patients.
CONCLUSION
Sex chromosome and autosomal CNV loci, such as Xp22.31 and 2p24.3, as well as the associated genes, such as VCX and NACAP9, could be candidate spermatogenesis genes. The high-frequency abnormal karyotypes, CNV loci, and hot genes represent new targets for future research.
Identifiants
pubmed: 37684669
doi: 10.1186/s12920-023-01652-2
pii: 10.1186/s12920-023-01652-2
pmc: PMC10485952
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
213Informations de copyright
© 2023. BioMed Central Ltd., part of Springer Nature.
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