Abstract
Male infertility is a multifactorial heterogeneous reproductive disorder in which genetic, epigenetic, and environmental factors play a role in the development of disease. Recent studies have shown that retrotransposon expression alterations may be related to impairment of spermatogenesis. Therefore, in this pilot study, we aimed to investigate whether HERV-K6 and HERV-K11 insertional variations have a role in idiopathic infertility among normozoospermic men. Genomic DNA isolated from the blood samples of 41 infertile normozoospermic and 45 fertile normozoospermic men were analyzed by inter-retrotransposon polymorphism polymerase chain reaction. HERV-K6 variation rates in the infertile and the fertile group were 0–58.3% and 0–53.4%, respectively. The variation rates of HERV-K11 were 0–75.0% in infertile and 0–77.8% in fertile men. The HERV-K6 and HERV-K11 insertion rates of the fertile group were higher than the infertile group (P < 0.0001 and P = 0.007, respectively). The findings of the study suggest that HERV-K6 and HERV-K11 retrotransposon insertion show variation among individuals, and their insertions might be associated with male infertility.
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Data Availability
The data that support the finding of this study are available from the corresponding author (NH), upon reasonable request.
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Funding
The present was supported by Ondokuz Mayis University Research Foundation (Project no: PYO.TIP.1901.19.007).
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SG and NH contributed to the study conception and design. Patient diagnosis was made by RA. Data collection and analysis were performed by NH. The manuscript was written by NH and edited by SG and RA. All authors commented on previous versions of the manuscript.
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The protocol and the consent forms of study were approved by the Ondokuz Mayıs University Clinical Research Ethics Committee with the reference number 2018/479. All participants signed a consent form stating that they have informed about the study and confirmed their participation. Participants or animals performed by any of the authors.
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43032_2023_1346_MOESM1_ESM.xlsx
Supplemetary Table. Jaccard’s similarity index of HERV-K6 and HERV-K11 polymorphisms in patients and controls (XLSX 42 KB)
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Hekim, N., Gunes, S., Ergun, S. et al. Insertional Variations of Human Endogenous Virus K6 and K11 in Normozoospermic Men. Reprod. Sci. 31, 267–274 (2024). https://doi.org/10.1007/s43032-023-01346-1
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DOI: https://doi.org/10.1007/s43032-023-01346-1