{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T16:53:55Z","timestamp":1769014435487,"version":"3.49.0"},"reference-count":42,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,1,8]],"date-time":"2022-01-08T00:00:00Z","timestamp":1641600000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["181931"],"award-info":[{"award-number":["181931"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>The TBX5 gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD). The aim of this research was to evaluate the association between DNA methylation levels of the TBX5 gene promoter and congenital septal defects. DNA methylation levels of six CpG sites in the TBX5 gene promoter were evaluated using pyrosequencing analysis in 35 patients with congenital septal defects and 48 controls. Average methylation levels were higher in individuals with congenital septal defects than in the controls (p &lt; 0.004). In five CpG sites, we also found higher methylation levels in patients than in the controls (p &lt; 0.05). High methylation levels were associated with congenital septal defects (OR = 3.91; 95% CI = 1.02\u201314.8; p = 0.045). The analysis of Receiver Operating Characteristic (ROC) showed that the methylation levels of the TBX5 gene could be used as a risk marker for congenital septal defects (AUC = 0.68, 95% CI = 0.56\u20130.80; p = 0.004). Finally, an analysis of environmental factors indicated that maternal infections increased the risk (OR = 2.90; 95% CI = 1.01\u20138.33; p = 0.048) of congenital septal defects. Our data suggest that a high DNA methylation of the TBX5 gene could be associated with congenital septal defects.<\/jats:p>","DOI":"10.3390\/biology11010096","type":"journal-article","created":{"date-parts":[[2022,1,9]],"date-time":"2022-01-09T20:29:26Z","timestamp":1641760166000},"page":"96","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["DNA Methylation Levels of the TBX5 Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients"],"prefix":"10.3390","volume":"11","author":[{"given":"Esbeidy","family":"Garc\u00eda-Flores","sequence":"first","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Ciudad de Mexico 14080, Mexico"},{"name":"Secci\u00f3n de Estudios de Posgrado e Investigaci\u00f3n, Escuela Superior de Medicina, Instituto Polit\u00e9cnico Nacional, Ciudad de Mexico 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Manuel","family":"Rodr\u00edguez-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Ciudad de Mexico 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ver\u00f3nica Marusa","family":"Borgonio-Cuadra","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Gen\u00f3mica, Instituto Nacional de Rehabilitaci\u00f3n Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilberto","family":"Vargas-Alarc\u00f3n","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Ciudad de Mexico 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Calder\u00f3n-Colmenero","sequence":"additional","affiliation":[{"name":"Departamento de Cardiolog\u00eda Pedi\u00e1trica, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Ciudad de Mexico 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Pablo","family":"Sandoval","sequence":"additional","affiliation":[{"name":"Laboratorio de Hemodin\u00e1mica e Intervenci\u00f3n en Cardiopat\u00edas Cong\u00e9nitas, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Ciudad de Mexico 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Antonio","family":"Garc\u00eda-Montes","sequence":"additional","affiliation":[{"name":"Laboratorio de Hemodin\u00e1mica e Intervenci\u00f3n en Cardiopat\u00edas Cong\u00e9nitas, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Ciudad de Mexico 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor Manuel","family":"Espinoza-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Hospital General de Zona No. 18, Playa del Carmen 77730, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Gerardo","family":"Reyes-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Estudios de Posgrado e Investigaci\u00f3n, Escuela Superior de Medicina, Instituto Polit\u00e9cnico Nacional, Ciudad de Mexico 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benny Giovanni","family":"Cazar\u00edn-Santos","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Ciudad de Mexico 14080, Mexico"},{"name":"Secci\u00f3n de Estudios de Posgrado e Investigaci\u00f3n, Escuela Superior de Medicina, Instituto Polit\u00e9cnico Nacional, Ciudad de Mexico 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Miranda-Duarte","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Gen\u00f3mica, Instituto Nacional de Rehabilitaci\u00f3n Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1983-0384","authenticated-orcid":false,"given":"Armando","family":"Gamboa-Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"Departamento de Patolog\u00eda, Instituto Nacional de Ciencias M\u00e9dicas y de la Nutrici\u00f3n Salvador Zubir\u00e1n, Ciudad de Mexico 14000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nonanzit","family":"P\u00e9rez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Ciudad de Mexico 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/jhg.2015.126","article-title":"Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease","volume":"61","author":"Yoshida","year":"2016","journal-title":"J. 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