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Sperm DNA integrity status is associated with DNA methylation signatures of imprinted genes and non-imprinted genes

  • Gamete Biology
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To evaluate the association between the DNA methylation of specific genes and sperm DNA integrity status in human sperm samples.

Methods

A total of 166 semen samples were evaluated (86 controls and 80 cases with impaired sperm DNA integrity). We detected the methylation status of 257 CpG sites among two imprinted genes (H19 and SNRPN) and four non-imprinted genes related to male infertility (MTHFR, GSTM1, DAZL, and CREM) by using a targeted next-generation sequencing method.

Results

Differential methylation was found in 43 CpG sites of the promoters of the six candidate genes. H19, SNRPN, MTHFR, DAZL, GSTM1, and CREM contained 22, 12, 1, 4, 0, and 4 differentially methylated CpG sites (P<0.05), respectively. The imprinting genes were associated with relatively higher rates of differentially methylated CpG sites (28.21% in H19 and 41.38% in SNRPN) than the non-imprinting genes. One CpG site in H19 remained significant after performing strict Bonferroni correction.

Conclusion

In this study, we found that different site-specific DNA methylation signatures were correlated with sperm DNA integrity status. Further studies are needed to investigate the specific mechanisms leading to the epigenetic modifications.

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Acknowledgements

We thank Dr. Huang Nali from Sinotech Genomics (Shanghai, China) for her kind help in the statistical analysis. We thank Genesky Biotechnologies Inc. (Shanghai, China) for all the scientific support.

Funding

This work was supported by the Foundation of the Education Department of Anhui Province (KJ2019A0286) and Key Research and Development Plan of Anhui Province (202004j07020032).

Author information

Author notes

  1. Bing Song and Chao Wang contributed equally to this work.

Authors and Affiliations

  1. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China

    Bing Song, Chao Wang, Yujie Chen, Guanjian Li, Yang Gao, Fuxi Zhu, Huan Wu, Mingrong Lv, Ping Zhou, Zhaolian Wei, Xiaojin He & Yunxia Cao

  2. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, China

    Bing Song, Chao Wang, Fuxi Zhu, Huan Wu, Mingrong Lv, Ping Zhou, Zhaolian Wei, Xiaojin He & Yunxia Cao

  3. Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Hefei, 230032, China

    Bing Song, Chao Wang, Fuxi Zhu, Huan Wu, Mingrong Lv, Ping Zhou, Zhaolian Wei, Xiaojin He & Yunxia Cao

  4. Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, 230032, China

    Bing Song, Chao Wang, Fuxi Zhu, Huan Wu, Mingrong Lv, Ping Zhou, Zhaolian Wei, Xiaojin He & Yunxia Cao

  5. Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, 230032, China

    Bing Song, Chao Wang, Fuxi Zhu, Huan Wu, Mingrong Lv, Ping Zhou, Zhaolian Wei, Xiaojin He & Yunxia Cao

Authors
  1. Bing Song
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  2. Chao Wang
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  11. Xiaojin He
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Corresponding authors

Correspondence to Xiaojin He or Yunxia Cao.

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Ethics approval and consent to participate

This study was approved by the Ethical Review Board of The First Affiliated Hospital of Anhui Medical University and was conducted according to the Declaration of Helsinki principles (PJ2020-03-13). Written informed consents were obtained from all enrolled patients.

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The authors declare no competing interests.

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Song, B., Wang, C., Chen, Y. et al. Sperm DNA integrity status is associated with DNA methylation signatures of imprinted genes and non-imprinted genes. J Assist Reprod Genet 38, 2041–2048 (2021). https://doi.org/10.1007/s10815-021-02157-6

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  • DOI: https://doi.org/10.1007/s10815-021-02157-6

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