{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:25:08Z","timestamp":1783445108599,"version":"3.54.6"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,9,30]],"date-time":"2019-09-30T00:00:00Z","timestamp":1569801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely <jats:italic>FV 1691G&gt;A<\/jats:italic>, <jats:italic>FII 20210G&gt;A, MTHFR 677C&gt;T<\/jats:italic> and <jats:italic>1298A&gt;C<\/jats:italic>, <jats:italic>TNF\u03b1\u2010308G&gt;A<\/jats:italic> and \u2010<jats:italic>238G&gt;A<\/jats:italic>, <jats:italic>ACAN<\/jats:italic> VNTR, and <jats:italic>IL1RN*2\u2010<\/jats:italic>VNTR were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients with the <jats:italic>MTHFR 677TT<\/jats:italic> genotype showed a higher number of affected joints (1.83\u00a0\u00b1\u00a00.9 vs. 0.55\u00a0\u00b1\u00a00.7 for <jats:italic>CC<\/jats:italic>; <jats:italic>p<\/jats:italic>\u00a0=\u00a0.023), whereas those with the <jats:italic>MTHFR 1298AC<\/jats:italic> genotype exhibited higher effusion according to two radiologists (0.90\u00a0\u00b1\u00a00.31\/1.20\u00a0\u00b1\u00a00.63 vs. 0.38\u00a0\u00b1\u00a00.52\/0.50\u00a0\u00b1\u00a00.53 for <jats:italic>AA<\/jats:italic> genotype; <jats:italic>p<\/jats:italic>\u00a0=\u00a0.043\/0.036, respectively). In addition, patients with the <jats:italic>TNF\u03b1\u2010308GA<\/jats:italic> genotype had more subchondral cysts (0.75\u00a0\u00b1\u00a00.95 vs. 0.07\u00a0\u00b1\u00a00.26 for <jats:italic>GG<\/jats:italic> genotype; <jats:italic>p<\/jats:italic>\u00a0=\u00a0.041).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The distribution of risk genotypes for <jats:italic>MTHFR<\/jats:italic> and <jats:italic>TNF\u03b1\u2010308GA<\/jats:italic> suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.979","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T04:54:56Z","timestamp":1569905696000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5499-0626","authenticated-orcid":false,"given":"Jos\u00e9 de Jes\u00fas","family":"L\u00f3pez\u2010Jim\u00e9nez","sequence":"first","affiliation":[{"name":"Divisi\u00f3n de Medicina Molecular Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente IMSS DFMI, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara Guadalajara Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1476-1110","authenticated-orcid":false,"given":"Ricardo","family":"Ortega\u2010Cervantes","sequence":"additional","affiliation":[{"name":"Servicio de Ortopedia Unidad M\u00e9dica de Alta Especialidad Hospital de Pediatr\u00eda Centro M\u00e9dico Nacional de Occidente Guadalajara Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6997-1441","authenticated-orcid":false,"given":"Hilda","family":"Luna\u2010Z\u00e1izar","sequence":"additional","affiliation":[{"name":"Departamento de Qu\u00edmica Centro Universitario de Ciencias Exactas e Ingenier\u00edas Universidad de Guadalajara Guadalajara Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3420-8574","authenticated-orcid":false,"given":"Ana\u2010Lilia","family":"Fletes\u2010Rayas","sequence":"additional","affiliation":[{"name":"Departamento de Enfermer\u00eda Cl\u00ednica Integral Aplicada Centro Universitario de Ciencias de la Salud (CUCS) Universidad de Guadalajara Guadalajara Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3740-2778","authenticated-orcid":false,"given":"Claudia\u2010Patricia","family":"Beltr\u00e1n\u2010Miranda","sequence":"additional","affiliation":[{"name":"Centro Universitario del Sur Universidad de Guadalajara Ciudad Guzm\u00e1n Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4120-0813","authenticated-orcid":false,"given":"Rogelio","family":"Troyo\u2010Sanrom\u00e1n","sequence":"additional","affiliation":[{"name":"Departamento de Fisiolog\u00eda Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara Guadalajara Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0132-1899","authenticated-orcid":false,"given":"Janet","family":"Soto\u2010Padilla","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda Unidad M\u00e9dica de Alta Especialidad Hospital de Pediatr\u00eda Centro M\u00e9dico Nacional de Occidente Guadalajara Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8261-5986","authenticated-orcid":false,"given":"Alberto","family":"Tlacuilo\u2010Parra","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Investigaci\u00f3n M\u00e9dica Unidad M\u00e9dica de Alta Especialidad Hospital de Pediatr\u00eda Centro M\u00e9dico Nacional de Occidente Guadalajara Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3853-1283","authenticated-orcid":false,"given":"Ana\u2010Rebeca","family":"Jaloma\u2010Cruz","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente IMSS Guadalajara Jalisco M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0049-3848(03)00144-0"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/72.2.315"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2005.01097.x"},{"issue":"1","key":"e_1_2_9_5_1","first-page":"S139","article-title":"Tratamiento preventivo y domiciliario de la hemofilia","volume":"43","author":"Esparza\u2010Flores M. 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