Mutational analysis of IZUMO1R in women with fertilization failure and polyspermy after in vitro fertilization
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.
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.
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.
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.
KeywordsFertilization failure Polyspermy IZUMO1R SNP
We are grateful to all participants in this study.
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.
The authors declare that they have no competing interests.
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