{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T14:00:30Z","timestamp":1785160830414,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,5,23]],"date-time":"2014-05-23T00:00:00Z","timestamp":1400803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81102517"],"award-info":[{"award-number":["81102517"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2014,8]]},"abstract":"Summary<\/jats:title>Objective<\/jats:title>This study explored the association between the risk of carbamazepine (CBZ<\/jats:styled-content>)\u2013inducedS<\/jats:styled-content>tevens\u2010J<\/jats:styled-content>ohnson syndrome (SJS<\/jats:styled-content>)\/toxic epidermal necrolysis (TEN<\/jats:styled-content>) andCBZ<\/jats:styled-content>dose, dose\u2010adjusted concentration, andABCB1<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0CYP3A4<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0EPHX1<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0FAS<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0SCN1A<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0MICA,<\/jats:italic><\/jats:styled-content>and<\/jats:italic>\u00a0BAG6<\/jats:italic><\/jats:styled-content>polymorphisms in patients ofH<\/jats:styled-content>an ethnicity with epilepsy who were living in northeasternC<\/jats:styled-content>hina.<\/jats:p><\/jats:sec>Materials and methods<\/jats:title>We determined the genotypes of patients withCBZ<\/jats:styled-content>\u2010SJS<\/jats:styled-content>\/TEN<\/jats:styled-content>andCBZ<\/jats:styled-content>\u2010tolerant patients, who were used as controls, forABCB1<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0CYP3A4<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0EPHX1<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0FAS<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0SCN1A<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0MICA,<\/jats:italic><\/jats:styled-content>and<\/jats:italic>\u00a0BAG6<\/jats:italic><\/jats:styled-content>polymorphisms by polymerase chain reaction (PCR)<\/jats:styled-content>amplification and direct sequencing. We measured the steady\u2010state serumCBZ<\/jats:styled-content>concentrations using fluorescence polarization immunoassay for the control patients.<\/jats:p><\/jats:sec>Results<\/jats:title>We observed statistically significant differences inEPHX1<\/jats:italic><\/jats:styled-content>c.337T>C polymorphisms between patients withCBZ<\/jats:styled-content>\u2010SJS<\/jats:styled-content>\/TEN<\/jats:styled-content>andCBZ<\/jats:styled-content>\u2010tolerant controls in terms of allelic and genotypic frequencies (p\u00a0=\u00a0<\/jats:italic>0.011 and p\u00a0=\u00a0<\/jats:italic>0.007, respectively). TheC<\/jats:styled-content>allele and theC<\/jats:styled-content>\u2010G<\/jats:styled-content>diplotype ofEPHX1<\/jats:italic><\/jats:styled-content>may play important roles in increasing the risk ofCBZ<\/jats:styled-content>\u2010SJS<\/jats:styled-content>\/TEN<\/jats:styled-content>development (odds ratio [OR]<\/jats:styled-content>\u00a00.478, 95% confidence interval [CI]<\/jats:styled-content>\u00a0=\u00a00.267\u20130.855, p\u00a0=\u00a0<\/jats:italic>0.011;OR<\/jats:styled-content>\u00a0=\u00a00.213, 95%CI<\/jats:styled-content>\u00a0=\u00a00.049\u20130.930, p\u00a0=\u00a00.025, respectively). We did not observe any significant associations betweenABCB1<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0CYP3A4<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0EPHX1<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0FAS<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0SCN1A<\/jats:italic><\/jats:styled-content>,<\/jats:italic>\u00a0MICA<\/jats:italic><\/jats:styled-content>or<\/jats:italic>\u00a0BAG6<\/jats:italic><\/jats:styled-content>genes andCBZ<\/jats:styled-content>dose or dose\u2010adjusted concentration inCBZ<\/jats:styled-content>\u2010tolerant patients.<\/jats:p><\/jats:sec>Significance<\/jats:title>We found a significant association betweenEPHX1<\/jats:italic><\/jats:styled-content>c.337T>C polymorphisms and the development ofCBZ<\/jats:styled-content>\u2013SJS<\/jats:styled-content>\/TEN<\/jats:styled-content>in patients of Han ethnicity living in northeastern China.EPHX1<\/jats:italic><\/jats:styled-content>c.337T>C polymorphisms may contribute to the risk of severeCBZ<\/jats:styled-content>\u2010SJS<\/jats:styled-content>\/TEN<\/jats:styled-content>by increasing the concentration of aCBZ<\/jats:styled-content>metabolite,CBZ<\/jats:styled-content>\u201010,11\u2010epoxide, in patients with epilepsy.<\/jats:p>A PowerPoint slide summarizing this article is available for download in the Supporting Information sectionhere<\/jats:ext-link>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.12655","type":"journal-article","created":{"date-parts":[[2014,5,23]],"date-time":"2014-05-23T18:19:50Z","timestamp":1400869190000},"page":"1301-1306","source":"Crossref","is-referenced-by-count":41,"title":["Association ofABCB1<\/i><\/scp>,<\/i>\u00a0CYP3A4<\/i><\/scp>,<\/i>\u00a0EPHX1<\/i><\/scp>,<\/i>\u00a0FAS<\/i><\/scp>,<\/i>\u00a0SCN1A<\/i><\/scp>,<\/i>\u00a0MICA,<\/i><\/scp>and<\/i>\u00a0BAG6<\/i><\/scp>polymorphisms with the risk of carbamazepine\u2010inducedS<\/scp>tevens\u2010J<\/scp>ohnson syndrome\/toxic epidermal necrolysis inC<\/scp>hineseH<\/scp>an patients with epilepsy"],"prefix":"10.1111","volume":"55","author":[{"given":"Xiao\u2010Jing","family":"He","sequence":"first","affiliation":[{"name":"Department of Pharmacy Shengjing Hospital of China Medical University Shenyang China"},{"name":"School of Pharmacy China Medical University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling\u2010Yan","family":"Jian","sequence":"additional","affiliation":[{"name":"Department of Pharmacy Shengjing Hospital of China Medical University Shenyang China"},{"name":"School of Pharmacy China Medical University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao\u2010Lin","family":"He","sequence":"additional","affiliation":[{"name":"Department of Respiratory Fengtian Hospital Affiliated to Shenyang Medical College Shenyang 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