Biaobang Chen, Weijie Wang, Juanzi Shi, Xiaoxi Sun, Yichun Guan, Guimin Hao, Junli Zhao, Jian Mu, Zhihua Zhang, Fangzhou Xu, Dengying Gao, Zhiqi Pan, Ran Yu, Hao Gu, Huizhen Fan, Yuxi Luo, Siyuan Xie, Xingzhu Du, Huixia Jing, Zhiqi Ye, Xuelin Zhang, Ruiqi Hai, Hongying Zhu, Tianyu Wu, Qiaoli Li, Jing Fu, Ling Wu, Wenjing Wang, Chunyi Li, Feiyang Diao, Qiuwen Shi, Lin Li, Shiru Xu, Da Li, Xi Dong, Peng Xu, Jiucun Wang, Lin He, Yanping Kuang, Qing Sang, Lei Wang
{"title":"Genetic landscape of human oocyte/embryo defects.","authors":"Biaobang Chen, Weijie Wang, Juanzi Shi, Xiaoxi Sun, Yichun Guan, Guimin Hao, Junli Zhao, Jian Mu, Zhihua Zhang, Fangzhou Xu, Dengying Gao, Zhiqi Pan, Ran Yu, Hao Gu, Huizhen Fan, Yuxi Luo, Siyuan Xie, Xingzhu Du, Huixia Jing, Zhiqi Ye, Xuelin Zhang, Ruiqi Hai, Hongying Zhu, Tianyu Wu, Qiaoli Li, Jing Fu, Ling Wu, Wenjing Wang, Chunyi Li, Feiyang Diao, Qiuwen Shi, Lin Li, Shiru Xu, Da Li, Xi Dong, Peng Xu, Jiucun Wang, Lin He, Yanping Kuang, Qing Sang, Lei Wang","doi":"10.1016/j.xgen.2025.101012","DOIUrl":null,"url":null,"abstract":"<p><p>Oocyte/embryo defects can result in oocyte maturation arrest, fertilization failure, embryonic arrest, and infertility as well as recurrent in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) failures. However, the genetic determinants of human oocyte/embryo defects remain largely unknown, and the overall genetic diagnostic yield for such defects has not been evaluated. Here, we performed exome sequencing in 3,627 patients with oocyte/embryo defects. We identified a total of 479 positive cases carrying variants in 37 known genes, indicating a diagnostic yield of 13.2%. Case-control association studies combined with gene set enrichment analysis identified 123 novel candidate genes responsible for oocyte/embryo defects. These results provide a comprehensive genetic landscape of human oocyte/embryo defects and highlight the clinical significance of genetic counseling in infertile patients with oocyte/embryo defects. Our study will lay the foundation for transforming the traditional clinical practice for failed IVF/ICSI attempts into genetic-based precision and personalized treatment for these patients.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"101012"},"PeriodicalIF":11.1000,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cell genomics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.xgen.2025.101012","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Oocyte/embryo defects can result in oocyte maturation arrest, fertilization failure, embryonic arrest, and infertility as well as recurrent in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) failures. However, the genetic determinants of human oocyte/embryo defects remain largely unknown, and the overall genetic diagnostic yield for such defects has not been evaluated. Here, we performed exome sequencing in 3,627 patients with oocyte/embryo defects. We identified a total of 479 positive cases carrying variants in 37 known genes, indicating a diagnostic yield of 13.2%. Case-control association studies combined with gene set enrichment analysis identified 123 novel candidate genes responsible for oocyte/embryo defects. These results provide a comprehensive genetic landscape of human oocyte/embryo defects and highlight the clinical significance of genetic counseling in infertile patients with oocyte/embryo defects. Our study will lay the foundation for transforming the traditional clinical practice for failed IVF/ICSI attempts into genetic-based precision and personalized treatment for these patients.
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