{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:12:49Z","timestamp":1793157169842,"version":"4.5.0"},"reference-count":41,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T00:00:00Z","timestamp":1691625600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background. Legg\u2013Calv\u00e9\u2013Perthes (LCPD) disease is a complex condition affecting the femoral head\u2019s epiphysis in children. It occurs with a prevalence ranging from 0.4 to 29.0 cases per 100,000 children under the age of 15. It involves various factors, including genes associated with coagulation and fibrinolysis, pro-inflammatory factors, and vasoactive substances. Methods. We investigated the relationship between genetic mutations associated with coagulation and vascular disorders and the occurrence of LCPD in Polish patients. We performed a study involving 25 patients with LCPD and 100 healthy controls. All subjects were genotyped for eNOS4, Factor V Leiden, prothrombin, tPA25, and MTHFR polymorphism. Results. The analysis revealed that the frequencies of eNOS4 genotypes were significantly different in LCPD patients than in the control group (p = 0.018). The frequencies of 4a allele were significantly higher in patients with LCPD than in the healthy population (26% vs. 9%, p = 0.0012). There were no significant differences in genotype and allele frequencies for Factor V Leiden, prothrombin tPA 25, and MTHFR gene polymorphisms between patients with LCPD and the controls. Conclusions. Genotype and allele frequencies of eNOS4 were significantly higher in patients with LCPD. These findings suggest a potential association between the eNOS gene polymorphism and an increased risk of developing LCPD.<\/jats:p>","DOI":"10.3390\/jcm12165209","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T10:52:40Z","timestamp":1691664760000},"page":"5209","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Association between Polymorphism eNOS4, tPA, Factor V Leiden, Prothrombin, and Methylenetetrahydrofolate Reductase and the Occurrence of Legg\u2013Calv\u00e9\u2013Perthes Disease"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5586-5568","authenticated-orcid":false,"given":"Anna","family":"Matuszewska","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Maria Curie-Sk\u0142odowska University, 20-033 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3245-945X","authenticated-orcid":false,"given":"Oliwer","family":"Sygacz","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedics and Rehabilitation, Medical University of Lublin, 20-059 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0141ukasz","family":"Matuszewski","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedics and Rehabilitation, Medical University of Lublin, 20-059 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8956-2717","authenticated-orcid":false,"given":"Szymon","family":"Stec","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedics and Rehabilitation, Medical University of Lublin, 20-059 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrzej","family":"Grzegorzewski","sequence":"additional","affiliation":[{"name":"Clinic of Orthopaedics and Paediatric Orthopaedic, Medical University of \u0141\u00f3d\u017a, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"G\u0105ga\u0142a","sequence":"additional","affiliation":[{"name":"Orthopedic Surgery and Traumatology Department, Medical University of Lublin, 20-059 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.5312\/wjo.v10.i3.145","article-title":"Aetiology of Legg-Calv\u00e9-Perthes disease: A systematic review","volume":"10","author":"Pavone","year":"2019","journal-title":"World J. 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