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Mutational analysis of IZUMO1R in women with fertilization failure and polyspermy after in vitro fertilization

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The etiology of fertilization failure and polyspermy during assisted reproductive technology (ART) remains elusive. The aim of this study was to determine whether mutations in the IZUMO1 receptor (IZUMO1R) gene, which is essential for mammalian fertilization, contribute to the pathogenesis of fertilization failure or polyspermy in humans.

Methods

We recruited 215 female subjects with fertilization failure/poor fertilization, 330 females with polyspermy, and 300 matched controls. All subjects underwent IVF treatment. Peripheral blood DNA of cases was extracted and screened for mutations in IZUMO1R gene.

Results

Four rare single nucleotide polymorphisms (SNPs) of the IZUMO1R were identified among specimens from patients with fertilization failure and polyspermy but were absent in the 300 control subjects. These included a missense SNP (rs76779571 in exon 4), which was found in two fertilization failure patients, and a nonsynonymous SNP (rs61742524 in exon 1) and two synonymous SNPs (rs76781645 in exon 1 and rs377369966 in intron 2), which were found among three polyspermy cases.

Conclusions

The variations in IZUMO1R might play a role in the pathogenesis of fertilization failure and polyspermy, and the putative functions and effects of these rare variants require further studies.

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Acknowledgements

We are grateful to all participants in this study.

Funding

This study was supported by the National Science and Technology Major Project of China (2016YFC1000600), the National Natural Science Foundation of China (81622021, 31371453, 31571548, 81430029, 81490743, 81300461), the Program for New Century Excellent Talents in University (NCET-13-0355), and the Young Scholars Program of Shandong University (2015WLJH54).

Author information

Authors and Affiliations

  1. Center for Reproductive Medicine, Shandong University, Jinan, China

    Mengru Yu, Han Zhao, Tailai Chen, Ye Tian, Mei Li, Keliang Wu, Yuehong Bian, Shizhen Su, Yongzhi Cao, Yunna Ning, Hongbin Liu & Zi-Jiang Chen

  2. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China

    Mengru Yu, Han Zhao, Tailai Chen, Ye Tian, Mei Li, Keliang Wu, Yuehong Bian, Shizhen Su, Yongzhi Cao, Yunna Ning, Hongbin Liu & Zi-Jiang Chen

  3. The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, China

    Mengru Yu, Han Zhao, Tailai Chen, Ye Tian, Mei Li, Keliang Wu, Yuehong Bian, Shizhen Su, Yongzhi Cao, Yunna Ning, Hongbin Liu & Zi-Jiang Chen

  4. Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China

    Mengru Yu, Han Zhao, Tailai Chen, Ye Tian, Mei Li, Keliang Wu, Yuehong Bian, Shizhen Su, Yongzhi Cao, Yunna Ning, Hongbin Liu & Zi-Jiang Chen

  5. Center for Reproductive Medicine, School of Medicine, Ren Ji Hospital, Shanghai Jiao Tong University, Shanghai, China

    Zi-Jiang Chen

  6. Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China

    Zi-Jiang Chen

Authors
  1. Mengru Yu
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  2. Han Zhao
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  3. Tailai Chen
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  4. Ye Tian
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  5. Mei Li
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  6. Keliang Wu
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  7. Yuehong Bian
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  8. Shizhen Su
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  9. Yongzhi Cao
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  10. Yunna Ning
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  11. Hongbin Liu
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  12. Zi-Jiang Chen
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Corresponding author

Correspondence to Hongbin Liu.

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Ethics approval and consent to participate

Informed consents were obtained from all subjects. The study was approved by the Institutional Review Board of Reproductive Medicine of Shandong University, China.

Competing interests

The authors declare that they have no competing interests.

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Yu, M., Zhao, H., Chen, T. et al. Mutational analysis of IZUMO1R in women with fertilization failure and polyspermy after in vitro fertilization. J Assist Reprod Genet 35, 539–544 (2018). https://doi.org/10.1007/s10815-017-1101-5

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  • DOI: https://doi.org/10.1007/s10815-017-1101-5

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