DNA Methylation Levels of the <i>TBX5</i> Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients
The <i>TBX5</i> 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 <i>TBX5...
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MDPI AG
2022-01-01
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| author | Esbeidy García-Flores José Manuel Rodríguez-Pérez Verónica Marusa Borgonio-Cuadra Gilberto Vargas-Alarcón Juan Calderón-Colmenero Juan Pablo Sandoval José Antonio García-Montes Víctor Manuel Espinoza-Gutiérrez Juan Gerardo Reyes-García Benny Giovanni Cazarín-Santos Antonio Miranda-Duarte Armando Gamboa-Domínguez Nonanzit Pérez-Hernández |
| author_facet | Esbeidy García-Flores José Manuel Rodríguez-Pérez Verónica Marusa Borgonio-Cuadra Gilberto Vargas-Alarcón Juan Calderón-Colmenero Juan Pablo Sandoval José Antonio García-Montes Víctor Manuel Espinoza-Gutiérrez Juan Gerardo Reyes-García Benny Giovanni Cazarín-Santos Antonio Miranda-Duarte Armando Gamboa-Domínguez Nonanzit Pérez-Hernández |
| author_sort | Esbeidy García-Flores |
| collection | DOAJ |
| description | The <i>TBX5</i> 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 <i>TBX5</i> gene promoter and congenital septal defects. DNA methylation levels of six CpG sites in the <i>TBX5</i> 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 (<i>p</i> < 0.004). In five CpG sites, we also found higher methylation levels in patients than in the controls (<i>p</i> < 0.05). High methylation levels were associated with congenital septal defects (OR = 3.91; 95% CI = 1.02–14.8; <i>p</i> = 0.045). The analysis of Receiver Operating Characteristic (ROC) showed that the methylation levels of the <i>TBX5</i> gene could be used as a risk marker for congenital septal defects (AUC = 0.68, 95% CI = 0.56–0.80; <i>p</i> = 0.004). Finally, an analysis of environmental factors indicated that maternal infections increased the risk (OR = 2.90; 95% CI = 1.01–8.33; <i>p</i> = 0.048) of congenital septal defects. Our data suggest that a high DNA methylation of the <i>TBX5</i> gene could be associated with congenital septal defects. |
| first_indexed | 2024-03-10T01:53:45Z |
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| id | doaj.art-2900b31e45fb4ee5a6dceb67dd0937f8 |
| institution | Directory Open Access Journal |
| issn | 2079-7737 |
| language | English |
| last_indexed | 2024-03-10T01:53:45Z |
| publishDate | 2022-01-01 |
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| spelling | doaj.art-2900b31e45fb4ee5a6dceb67dd0937f82023-11-23T13:01:10ZengMDPI AGBiology2079-77372022-01-011119610.3390/biology11010096DNA Methylation Levels of the <i>TBX5</i> Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric PatientsEsbeidy García-Flores0José Manuel Rodríguez-Pérez1Verónica Marusa Borgonio-Cuadra2Gilberto Vargas-Alarcón3Juan Calderón-Colmenero4Juan Pablo Sandoval5José Antonio García-Montes6Víctor Manuel Espinoza-Gutiérrez7Juan Gerardo Reyes-García8Benny Giovanni Cazarín-Santos9Antonio Miranda-Duarte10Armando Gamboa-Domínguez11Nonanzit Pérez-Hernández12Departamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de Mexico 14080, MexicoDepartamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de Mexico 14080, MexicoDepartamento de Medicina Genómica, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, MexicoDepartamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de Mexico 14080, MexicoDepartamento de Cardiología Pediátrica, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de Mexico 14080, MexicoLaboratorio de Hemodinámica e Intervención en Cardiopatías Congénitas, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de Mexico 14080, MexicoLaboratorio de Hemodinámica e Intervención en Cardiopatías Congénitas, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de Mexico 14080, MexicoHospital General de Zona No. 18, Playa del Carmen 77730, MexicoSección de Estudios de Posgrado e Investigación, Escuela Superior de Medicina, Instituto Politécnico Nacional, Ciudad de Mexico 11340, MexicoDepartamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de Mexico 14080, MexicoDepartamento de Medicina Genómica, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, MexicoDepartamento de Patología, Instituto Nacional de Ciencias Médicas y de la Nutrición Salvador Zubirán, Ciudad de Mexico 14000, MexicoDepartamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de Mexico 14080, MexicoThe <i>TBX5</i> 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 <i>TBX5</i> gene promoter and congenital septal defects. DNA methylation levels of six CpG sites in the <i>TBX5</i> 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 (<i>p</i> < 0.004). In five CpG sites, we also found higher methylation levels in patients than in the controls (<i>p</i> < 0.05). High methylation levels were associated with congenital septal defects (OR = 3.91; 95% CI = 1.02–14.8; <i>p</i> = 0.045). The analysis of Receiver Operating Characteristic (ROC) showed that the methylation levels of the <i>TBX5</i> gene could be used as a risk marker for congenital septal defects (AUC = 0.68, 95% CI = 0.56–0.80; <i>p</i> = 0.004). Finally, an analysis of environmental factors indicated that maternal infections increased the risk (OR = 2.90; 95% CI = 1.01–8.33; <i>p</i> = 0.048) of congenital septal defects. Our data suggest that a high DNA methylation of the <i>TBX5</i> gene could be associated with congenital septal defects.https://www.mdpi.com/2079-7737/11/1/96congenital septal defectsDNA methylation<i>TBX5</i> geneepigenetic markerstranscriptional factors |
| spellingShingle | Esbeidy García-Flores José Manuel Rodríguez-Pérez Verónica Marusa Borgonio-Cuadra Gilberto Vargas-Alarcón Juan Calderón-Colmenero Juan Pablo Sandoval José Antonio García-Montes Víctor Manuel Espinoza-Gutiérrez Juan Gerardo Reyes-García Benny Giovanni Cazarín-Santos Antonio Miranda-Duarte Armando Gamboa-Domínguez Nonanzit Pérez-Hernández DNA Methylation Levels of the <i>TBX5</i> Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients Biology congenital septal defects DNA methylation <i>TBX5</i> gene epigenetic markers transcriptional factors |
| title | DNA Methylation Levels of the <i>TBX5</i> Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients |
| title_full | DNA Methylation Levels of the <i>TBX5</i> Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients |
| title_fullStr | DNA Methylation Levels of the <i>TBX5</i> Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients |
| title_full_unstemmed | DNA Methylation Levels of the <i>TBX5</i> Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients |
| title_short | DNA Methylation Levels of the <i>TBX5</i> Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients |
| title_sort | dna methylation levels of the i tbx5 i gene promoter are associated with congenital septal defects in mexican paediatric patients |
| topic | congenital septal defects DNA methylation <i>TBX5</i> gene epigenetic markers transcriptional factors |
| url | https://www.mdpi.com/2079-7737/11/1/96 |
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