{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T06:15:54Z","timestamp":1772345754273,"version":"3.50.1"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:00:00Z","timestamp":1758153600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:00:00Z","timestamp":1758153600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002386","name":"Cairo University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002386","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Preeclampsia is a multi-factorial disease, with both genetic and environmental factors contributing to its development. The genetic susceptibility in preeclampsia has been determined to be around 50%. STORKHEAD_BOX1 PROTEIN 1 (<jats:italic>STOX1<\/jats:italic>), is the gene of interest in this study. The most frequent variant of this gene is c.457T\u2009&gt;\u2009C (rs1341667). This case-control study was conducted on 96 participants recruited from both the Obstetrics outpatient clinic at Kasr Al Ainy hospital and the High-Risk Pregnancy Department, Cairo University. Patients were divided into 2 groups: (group I: 48 pregnant females with preeclampsia diagnosed on basis of the American College of obstetrics and gynecology criteria, group II: 48 healthy control pregnant females of matching age were included. After collecting the blood sample, DNA was extracted and detection of STOX1(NM_001130161.3): c.457T\u2009&gt;\u2009C: p. (Tyr153His) gene variant by TaqMan Real-Time PCR were done on all involved individuals. The homozygous CC genotype, previously linked to increased preeclampsia risk, was identified in 27.1% of controls (<jats:italic>n<\/jats:italic>\u2009=\u200913) and 31.3% of cases (<jats:italic>n<\/jats:italic>\u2009=\u200915), with no statistically significant difference (<jats:italic>P<\/jats:italic>\u2009=\u20090.654). The heterozygous CT genotype, associated with moderate risk, was observed in 41.7% of controls (<jats:italic>n<\/jats:italic>\u2009=\u200920) and 39.6% of cases (<jats:italic>n<\/jats:italic>\u2009=\u200919) (<jats:italic>P<\/jats:italic>\u2009=\u20090.835). The inheritance model analysis showed no statistically significant association between the STOX1 c.457T\u2009&gt;\u2009C variant and preeclampsia under any of the tested models. Genotypic distribution conformed to Hardy-Weinberg equilibrium in both groups, supporting the absence of deviation. These findings suggest no significant association between the STOX1 (NM_001130161.3): c.457T\u2009&gt;\u2009C (p.Tyr153His) variant and susceptibility to preeclampsia in the studied population.<\/jats:p>","DOI":"10.1038\/s41598-025-20238-9","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T11:16:05Z","timestamp":1758194165000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Exploring the association between STOX1:p.(Tyr153His) variant and preeclampsia risk in Egyptian women"],"prefix":"10.1038","volume":"15","author":[{"given":"Amira","family":"Kotb","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Wagdy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heba","family":"Sharaf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Sediek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hala","family":"Ashraf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,9,18]]},"reference":[{"key":"20238_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12884-018-2152-z","volume":"19","author":"MD Amosco","year":"2019","unstructured":"Amosco, M. D. et al. Non-additive effects of ACVR2A in preeclampsia in a Philippine population. BMC Pregnancy Childbirth. 19, 1\u20138 (2019).","journal-title":"BMC Pregnancy Childbirth"},{"issue":"4","key":"20238_CR2","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1002\/ajmg.a.30257","volume":"130","author":"S Cnattingius","year":"2004","unstructured":"Cnattingius, S., Reilly, M., Pawitan, Y. & Lichtenstein, P. Maternal and fetal genetic factors account for most of Familial aggregation of preeclampsia: a population-based Swedish cohort study. Am. J. Med. Genet. Part. A. 130 (4), 365\u2013371 (2004).","journal-title":"Am. J. Med. Genet. Part. A"},{"issue":"2","key":"20238_CR3","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1161\/HYPERTENSIONAHA.120.15619","volume":"77","author":"CE Dunk","year":"2021","unstructured":"Dunk, C. E. et al. Functional evaluation of STOX1 (STORKHEAD-BOX PROTEIN 1) in placentation, preeclampsia, and preterm birth. Hypertension 77 (2), 475\u2013490 (2021).","journal-title":"Hypertension"},{"issue":"11","key":"20238_CR4","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","volume":"35","author":"C Kopanos","year":"2019","unstructured":"Kopanos, C. et al. VarSome: the human genomic variant search engine. Bioinformatics 35 (11), 1978\u20131980 (2019).","journal-title":"Bioinformatics"},{"key":"20238_CR5","doi-asserted-by":"publisher","first-page":"144894","DOI":"10.1016\/j.gene.2020.144894","volume":"754","author":"E Pinarbasi","year":"2020","unstructured":"Pinarbasi, E., Cekin, N., Bildirici, A. E., Akin, S. & Yanik, A. STOX1 gene Y153H polymorphism is associated with early-onset preeclampsia in Turkish population. Gene 754, 144894 (2020).","journal-title":"Gene"},{"issue":"13","key":"20238_CR6","doi-asserted-by":"publisher","first-page":"2658","DOI":"10.1093\/hmg\/ddq152","volume":"19","author":"M Van Dijk","year":"2010","unstructured":"Van Dijk, M. et al. The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by \u03b1-T-catenin upregulation. Hum. Mol. Genet. 19 (13), 2658\u20132667 (2010).","journal-title":"Hum. Mol. Genet."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-20238-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-20238-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-20238-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T11:16:05Z","timestamp":1758194165000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-20238-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,18]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["20238"],"URL":"https:\/\/doi.org\/10.1038\/s41598-025-20238-9","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,18]]},"assertion":[{"value":"31 May 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The authors have no conflict of interest to declare.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"32611"}}