Genetic polymorphisms in patients with celft lip and/or palate non-syndromics
Among the most frequent congenital defects are cleft lip and/or palate (CL/P), with a prevalence of 1:1,000 live births. 70% of CL/P are non-syndromic, which means that they are found as an isolated defect without additional anomalies. They have a complex etiology with both an environmental and gene...
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| Format: | Online |
| Language: | spa |
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Universidad Pedagógica y Tecnológica de Colombia
2019
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| Online Access: | https://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/view/9838 |
| _version_ | 1801706345758457856 |
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| author | Cárdenas-Nieto, Diana Milena Leone, Paola E Paz-y-Miño, César Forero-Castro, Maribel |
| author_facet | Cárdenas-Nieto, Diana Milena Leone, Paola E Paz-y-Miño, César Forero-Castro, Maribel |
| author_sort | Cárdenas-Nieto, Diana Milena |
| collection | OJS |
| description | Among the most frequent congenital defects are cleft lip and/or palate (CL/P), with a prevalence of 1:1,000 live births. 70% of CL/P are non-syndromic, which means that they are found as an isolated defect without additional anomalies. They have a complex etiology with both an environmental and genetic component. By the development of human genome sequencing technologies have been identified polymorphic variants that may be associated with the CL/P phenotype and therefore may contribute to the multifactorial etiology of these. This review describes the commonly associated variants and their role in the etiology of CL/P. The SNPs located in the genes IFR6, MSX1, VAX1, PAX9, CHD1, FGF1, GREM1 and WNT3 have been significantly related to the presence of CL/P, and the variants located in the genes APC, GSK3, DVL2, BMP4, ABCA4, BHMT, NTN1, TBX1, EPHA3, FAM49A, MGMT, MMP3, TIMP2 y NOG, although its association with the presence of orofacial fissures has been reported, its relationship with this phenotype is not yet clear. It is important to carry out studies to identify genetic variants that involve specific populations in order to understand the etiology of non-syndromic CL/P. |
| format | Online |
| id | oai:oai.revistas.uptc.edu.co:article-9838 |
| institution | Revista Ciencia en Desarrollo |
| language | spa |
| publishDate | 2019 |
| publisher | Universidad Pedagógica y Tecnológica de Colombia |
| record_format | ojs |
| spelling | oai:oai.revistas.uptc.edu.co:article-98382020-11-11T02:06:28Z Genetic polymorphisms in patients with celft lip and/or palate non-syndromics Polimorfismos genéticos en pacientes con fisuras labio y/o palatinas no sindrómicos Cárdenas-Nieto, Diana Milena Leone, Paola E Paz-y-Miño, César Forero-Castro, Maribel FL/P polimorfismos genes no-sindrómicas CL/P polymorphism genes non-syndromic Among the most frequent congenital defects are cleft lip and/or palate (CL/P), with a prevalence of 1:1,000 live births. 70% of CL/P are non-syndromic, which means that they are found as an isolated defect without additional anomalies. They have a complex etiology with both an environmental and genetic component. By the development of human genome sequencing technologies have been identified polymorphic variants that may be associated with the CL/P phenotype and therefore may contribute to the multifactorial etiology of these. This review describes the commonly associated variants and their role in the etiology of CL/P. The SNPs located in the genes IFR6, MSX1, VAX1, PAX9, CHD1, FGF1, GREM1 and WNT3 have been significantly related to the presence of CL/P, and the variants located in the genes APC, GSK3, DVL2, BMP4, ABCA4, BHMT, NTN1, TBX1, EPHA3, FAM49A, MGMT, MMP3, TIMP2 y NOG, although its association with the presence of orofacial fissures has been reported, its relationship with this phenotype is not yet clear. It is important to carry out studies to identify genetic variants that involve specific populations in order to understand the etiology of non-syndromic CL/P. Dentro de los defectos congénitos más frecuentes se encuentran las fisuras labio y/o palatinas (FL/P), presentando una prevalencia de alrededor de 1:1.000 nacimientos vivos. El 70% de FL/P son de tipo no sindrómico, lo cual hace referencia a que se encuentran como un defecto aislado sin anomalías adicionales. Poseen una etiología compleja con un componente tanto ambiental como genético. Con el desarrollo de tecnologías de secuenciación del genoma humano se han identificado variantes polimórficas que pueden estar asociadas al fenotipo de FL/P y por tal motivo pueden contribuir a la etiología multifactorial de éstas. En esta revisión se describen las variantes comúnmente asociadas y su papel en la etiología de las FL/P. Los SNPs localizados en los genes IFR6, MSX1, VAX1, PAX9, CHD1, FGF1, GREM1 y WNT3 se han relacionado significativamente con la presencia de FL/P, y las variantes ubicadas en los genes APC, GSK3, DVL2, BMP4, ABCA4, BHMT, NTN1, TBX1, EPHA3, FAM49A, MGMT, MMP3, TIMP2 y NOG aunque se ha reportado su asociación con la presencia de las fisuras orofaciales aún no es clara su relación con dicho fenotipo. Es importante realizar estudios de identificación de variantes genéticas que involucren poblaciones específicas con el fin de poder comprender la etiología de las FL/P no sindrómicas. Universidad Pedagógica y Tecnológica de Colombia 2019-07-23 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf https://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/view/9838 10.19053/01217488.v10.n2.2019.9838 Ciencia En Desarrollo; Vol. 10 No. 2 (2019): Vol 10, Núm. 2 (2019): Julio - Diciembre; 59-92 Ciencia en Desarrollo; Vol. 10 Núm. 2 (2019): Vol 10, Núm. 2 (2019): Julio - Diciembre; 59-92 2462-7658 0121-7488 spa https://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/view/9838/8658 |
| spellingShingle | FL/P polimorfismos genes no-sindrómicas CL/P polymorphism genes non-syndromic Cárdenas-Nieto, Diana Milena Leone, Paola E Paz-y-Miño, César Forero-Castro, Maribel Genetic polymorphisms in patients with celft lip and/or palate non-syndromics |
| title | Genetic polymorphisms in patients with celft lip and/or palate non-syndromics |
| title_alt | Polimorfismos genéticos en pacientes con fisuras labio y/o palatinas no sindrómicos |
| title_full | Genetic polymorphisms in patients with celft lip and/or palate non-syndromics |
| title_fullStr | Genetic polymorphisms in patients with celft lip and/or palate non-syndromics |
| title_full_unstemmed | Genetic polymorphisms in patients with celft lip and/or palate non-syndromics |
| title_short | Genetic polymorphisms in patients with celft lip and/or palate non-syndromics |
| title_sort | genetic polymorphisms in patients with celft lip and or palate non syndromics |
| topic | FL/P polimorfismos genes no-sindrómicas CL/P polymorphism genes non-syndromic |
| topic_facet | FL/P polimorfismos genes no-sindrómicas CL/P polymorphism genes non-syndromic |
| url | https://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/view/9838 |
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