{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:04:11Z","timestamp":1791561851440,"version":"4.3.4"},"reference-count":33,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T00:00:00Z","timestamp":1739232000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BJOG"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We investigated the clinical characteristics and pregnancy outcomes of patients with zona pellucida (ZP) gene variants undergoing assisted reproductive technology (ART) treatment, to identify variants associated with female infertility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Retrospective study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>University\u2010based reproductive medicine centre.<\/jats:p><\/jats:sec><jats:sec><jats:title>Population<\/jats:title><jats:p>Twelve patients in whom only empty follicles or degenerated oocytes were retrieved after controlled ovulation stimulation and for whom no successful pregnancies were achieved after ART treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Next\u2010generation sequencing (NGS) and Sanger sequencing were performed on DNA obtained from peripheral blood of the patients. The VCF files generated by the Genome Analysis Toolkit were functionally annotated using SnpEff with reference to the refSeq, gnomAD, dbSNP, InhouseSNP, ClinVar and dbNSFP databases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcome Measures<\/jats:title><jats:p>American College of Medical Genetics and Genomics (ACMG) annotation of the SnpEff results was performed using InterVar.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 14 ZP variants, including eight novel variants. These included heterozygous variants in <jats:italic>ZP1<\/jats:italic>, <jats:italic>ZP2<\/jats:italic> and <jats:italic>ZP3<\/jats:italic>. These findings contribute to the understanding of ZP gene variants and their roles in the diagnosis of an abnormal ZP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>ZP gene variants are associated with female infertility, which can potentially affect ART outcomes. Therefore, ZP gene variant screening should be performed in female patients experiencing ART failure with pertinent clinical and laboratory indicators to guide personalised treatment and enhance fertility outcomes. However, further research is required to confirm the functional impact of these variants.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1471-0528.18094","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T16:03:24Z","timestamp":1739289804000},"page":"75-82","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Association of Zona Pellucida Gene Variants With Female Infertility: A Retrospective Genetic Analysis"],"prefix":"10.1111","volume":"132","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3890-859X","authenticated-orcid":false,"given":"Sha\u2010wei","family":"Sa","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Center for Reproductive Medicine West China Second University Hospital, Sichuan University  Chengdu China"},{"name":"Key Laboratory of Obstetric, Gynecologic, and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li\u2010li","family":"Wang","sequence":"additional","affiliation":[{"name":"Sichuan Jinxin Xinan Women &amp; Children Hospital  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3144-0313","authenticated-orcid":false,"given":"Qian\u2010hong","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Center for Reproductive Medicine West China Second University Hospital, Sichuan University  Chengdu China"},{"name":"Key Laboratory of Obstetric, Gynecologic, and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2010.02.037"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.001"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aav8731"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-biochem-011520-105310"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R800027200"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/15.3.702"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1308851"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0064-y"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2020-207170"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh301"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(80)90334-7"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(88)90299-0"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(85)90089-0"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dem280"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh811"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2011.05.057"},{"key":"e_1_2_11_18_1","first-page":"2201","article-title":"ZP1 Mutations Are Associated With Empty Follicle Syndrome: Evidence for the Existence of an Intact Oocyte and a Zona Pellucida in Follicles up to the Early Antral Stage. A Case Report","volume":"34","author":"Dai C.","year":"2019","journal-title":"Human Reproduction"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0967199420000441"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2022.12.011"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1407202"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-021-02107-2"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s43032-022-00958-3"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2023.107828"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1256549"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.15482"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1822-7"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01990-1"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2020.11.003"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2023.01.010"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2017.03.029"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201203062"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2014.08.025"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jri.2014.08.006"}],"container-title":["BJOG: An International Journal of Obstetrics &amp; Gynaecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1471-0528.18094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T07:10:58Z","timestamp":1744701058000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/1471-0528.18094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,11]]},"references-count":33,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1111\/1471-0528.18094"],"URL":"https:\/\/doi.org\/10.1111\/1471-0528.18094","archive":["Portico"],"relation":{},"ISSN":["1470-0328","1471-0528"],"issn-type":[{"value":"1470-0328","type":"print"},{"value":"1471-0528","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,11]]},"assertion":[{"value":"2024-10-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}