{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T21:11:34Z","timestamp":1766869894834},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,12,30]],"date-time":"2015-12-30T00:00:00Z","timestamp":1451433600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Gastro and Hepatol"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aim<\/jats:title><jats:p>Budd\u2013Chiari syndrome (BCS) is defined as obstruction of hepatic venous outflow anywhere from the small hepatic veins to the suprahepatic inferior vena cava. The pathogenesis of BCS is still not fully understood. This study aimed to evaluate the association of factor V Leiden (FVL), Janus kinase 2 (JAK2), prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations with primary BCS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study was carried out on 35 patients with primary BCS and 15 age and gender matched healthy individuals as a control group. Genotyping of FVL, prothrombin, and MTHFR mutations was determined by GENEQUALITY AB\u2010THROMBO TYPE kit based on the reverse hybridization principle. JAK2 mutation was determined by polymerase chain reaction\u2010restriction fragment length polymorphism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There was a statistically significant difference between patients and controls regarding FVL, MTHFR C677T, and MTHFR A1298C mutations with odds ratio of 1.83, 2.0, and 1.79, respectively. Hetero MTHFR C677T, hetero FVL, and hetero MTHFR A1298C were the most common etiological factors being responsible for 57.1, 42.9, and 42.9% of primary BCS cases, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>It could be concluded that BCS is a multifactorial disease; in the current study, MTHFR C677T mutation was the most common cause of disease. Identification of one cause of BCS should not eliminate investigations for detection of other etiological factors.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jgh.13066","type":"journal-article","created":{"date-parts":[[2015,8,4]],"date-time":"2015-08-04T06:14:12Z","timestamp":1438668852000},"page":"235-240","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd\u2013Chiari syndrome in Egyptian patients"],"prefix":"10.1111","volume":"31","author":[{"given":"Hatem M","family":"El Sebay","sequence":"first","affiliation":[{"name":"Department of Medical Biochemistry; Faculty of Medicine Menoufia University  Shibin El Kom Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal A","family":"Safan","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry; Faculty of Medicine Menoufia University  Shibin El Kom Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashraf A","family":"Daoud","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry; Faculty of Medicine Menoufia University  Shibin El Kom Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Safaa I","family":"Tayel","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry; Faculty of Medicine Menoufia University  Shibin El Kom Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"A Nouh","sequence":"additional","affiliation":[{"name":"Department of Tropical Medicine, Faculty of Medicine Menoufia University  Shibin El Kom Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shymaa","family":"El Shafie","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry; Faculty of Medicine Menoufia University  Shibin El Kom Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,12,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v20.i43.16236"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejvs.2014.01.014"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2008.10.007"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jgh.12379"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.thromres.2012.08.259"},{"issue":"3","key":"e_1_2_7_7_1","first-page":"146","article-title":"Long\u2010term outcome of Budd\u2013Chiari syndrome: a single center experience","volume":"5","author":"Nozari N","year":"2013","journal-title":"Middle East J. 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