Mengru Yu1,2,3,4, Han Zhao1,2,3,4, Tailai Chen1,2,3,4, Ye Tian1,2,3,4, Mei Li1,2,3,4, Keliang Wu1,2,3,4, Yuehong Bian1,2,3,4, Shizhen Su1,2,3,4, Yongzhi Cao1,2,3,4, Yunna Ning1,2,3,4, Hongbin Liu5,6,7,8, Zi-Jiang Chen1,2,3,4,9,10. 1. Center for Reproductive Medicine, Shandong University, Jinan, China. 2. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China. 3. The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, China. 4. Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China. 5. Center for Reproductive Medicine, Shandong University, Jinan, China. humangenetics2008@hotmail.com. 6. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China. humangenetics2008@hotmail.com. 7. The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, China. humangenetics2008@hotmail.com. 8. Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China. humangenetics2008@hotmail.com. 9. Center for Reproductive Medicine, School of Medicine, Ren Ji Hospital, Shanghai Jiao Tong University, Shanghai, China. 10. Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
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.
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 failurepatients, 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.
Entities:
Keywords:
Fertilization failure; IZUMO1R; Polyspermy; SNP
Authors: David B Goldstein; Andrew Allen; Jonathan Keebler; Elliott H Margulies; Steven Petrou; Slavé Petrovski; Shamil Sunyaev Journal: Nat Rev Genet Date: 2013-06-11 Impact factor: 53.242
Authors: Andres Ramirez-Martinez; Yichi Zhang; Marie-Jose van den Boogaard; John R McAnally; Cristina Rodriguez-Caycedo; Andreas C Chai; Francesco Chemello; Maarten Pg Massink; Inge Cuppen; Martin G Elferink; Robert Jj van Es; Nard G Janssen; Linda Pam Walraven-van Oijen; Ning Liu; Rhonda Bassel-Duby; Richard H van Jaarsveld; Eric N Olson Journal: J Clin Invest Date: 2022-06-01 Impact factor: 19.456