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Journal of Assisted Reproduction and Genetics

, Volume 35, Issue 3, pp 539–544 | Cite as

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

  • 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
Genetics

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.

Keywords

Fertilization failure Polyspermy IZUMO1R SNP 

Notes

Acknowledgements

We are grateful to all participants in this study.

Funding information

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).

Compliance with ethical standards

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.

Supplementary material

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2017

Authors and Affiliations

  • Mengru Yu
    • 1
    • 2
    • 3
    • 4
  • Han Zhao
    • 1
    • 2
    • 3
    • 4
  • Tailai Chen
    • 1
    • 2
    • 3
    • 4
  • Ye Tian
    • 1
    • 2
    • 3
    • 4
  • Mei Li
    • 1
    • 2
    • 3
    • 4
  • Keliang Wu
    • 1
    • 2
    • 3
    • 4
  • Yuehong Bian
    • 1
    • 2
    • 3
    • 4
  • Shizhen Su
    • 1
    • 2
    • 3
    • 4
  • Yongzhi Cao
    • 1
    • 2
    • 3
    • 4
  • Yunna Ning
    • 1
    • 2
    • 3
    • 4
  • Hongbin Liu
    • 1
    • 2
    • 3
    • 4
  • Zi-Jiang Chen
    • 1
    • 2
    • 3
    • 4
    • 5
    • 6
  1. 1.Center for Reproductive MedicineShandong UniversityJinanChina
  2. 2.National Research Center for Assisted Reproductive Technology and Reproductive GeneticsJinanChina
  3. 3.The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of EducationJinanChina
  4. 4.Shandong Provincial Key Laboratory of Reproductive MedicineJinanChina
  5. 5.Center for Reproductive Medicine, School of MedicineRen Ji Hospital, Shanghai Jiao Tong UniversityShanghaiChina
  6. 6.Shanghai Key Laboratory for Assisted Reproduction and Reproductive GeneticsShanghaiChina

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