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


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.

SUBMITTER: Yu M 

PROVIDER: S-EPMC5904069 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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

Yu Mengru M   Zhao Han H   Chen Tailai T   Tian Ye Y   Li Mei M   Wu Keliang K   Bian Yuehong Y   Su Shizhen S   Cao Yongzhi Y   Ning Yunna Y   Liu Hongbin H   Chen Zi-Jiang ZJ  

Journal of assisted reproduction and genetics 20171215 3


<h4>Purpose</h4>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.<h4>Methods</h4>We recruited 215 female subjects with fertilization failure/poor fertilization, 330 females with polyspermy, and 300 matched con  ...[more]

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