NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes

Non-syndromic cleft lip with or without cleft palate (NSCLP) is a congenital malformation that shows the characteristics of a multifactorial pathology. In order to describe the genetic predisposition to this disorder, NAT genes were analyzed with special interest since they codify for N-acetyltransf...

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Detalles Bibliográficos
Autores: Santos, María Rita, Campaña, Hebe, Jurado Medina, Laura Smeldy, Sala, Camila, Muzzio, Marina, López-Camelo, Jorge Santiago, Bailliet, Graciela
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:Argentina
Institución:Universidad Nacional de La Plata
Repositorio:SEDICI (UNLP)
Idioma:inglés
OAI Identifier:oai:sedici.unlp.edu.ar:10915/71874
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/71874
Access Level:acceso abierto
Palabra clave:Antropología
N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC
N-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMC
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spelling NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypesVariantes de NAT2 y fisuras orales: evaluación del riesgo genético y la relativa importancia de los genotipos del embrión y maternoSantos, María RitaCampaña, HebeJurado Medina, Laura SmeldySala, CamilaMuzzio, MarinaLópez-Camelo, Jorge SantiagoBailliet, GracielaAntropologíaN-acetiltransferase 2; cleft lip; cleft palate; ECLAMCN-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMCNon-syndromic cleft lip with or without cleft palate (NSCLP) is a congenital malformation that shows the characteristics of a multifactorial pathology. In order to describe the genetic predisposition to this disorder, NAT genes were analyzed with special interest since they codify for N-acetyltransferases, the enzymes responsible for the biotransformation of arylamines, hydrazine drugs and a great number of toxins and carcinogens present in diet, cigarette smoke and the environment. The allelic transmission of NAT2 that determines the slow acetylator phenotype in 174 trios (case-mother/father) from ECLAMC (Latin American Collaborative Study of Congenital Malformations) maternities in Argentina was evaluated. The *4, *5B, *6, and *7 variants by PCR-RFLP were analyzed. A higher risk for the 5B*5B* genotypes (OR=2. 24; p=0.050) was found, at the expense of the cases from Patagonia, without the influence of the maternal genotype.El labio leporino con o sin paladar hendido (NSCLP) es una malformación congénita que presenta las características de una patología multifactorial. Se consideran de especial interés los genes NAT que codifican para las Nacetiltransferasas, enzimas responsables de la biotransformación de arilaminas, fármacos de hidrazina, y de un gran número de toxinas y carcinógenos presentes en la dieta, el humo de cigarro y el medio ambiente. Lo expuesto anteriormente ha despertado la sospecha de un posible rol de NAT2 en la manifestación de LL/PH en el recién nacido expuesto. En este trabajo se ha evaluado la transmisión alélica de variantes que determinan el fenotipo acetilador lento en 174 tríos (caso, madre y/o padre) reclutados por el ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) en maternidades de Argentina. Se analizaron las variantes *4, *5B, *6 y *7 mediante PCR-RFLP. Se halló un riesgo mayor en los casos con genotipos 5B*5B* (OR=2,24; p=0,050), a expensas de los casos de Patagonia, sin influencia del genotipo materno.Asociación de Antropología Biológica de la República Argentina2019-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://sedici.unlp.edu.ar/handle/10915/71874enginfo:eu-repo/semantics/altIdentifier/issn/1853-6387info:eu-repo/semantics/altIdentifier/doi/10.17139/raab.2019.0021.01.08info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/4.0/Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2024-05-08T12:50:09Zoai:sedici.unlp.edu.ar:10915/71874Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292024-05-08 12:50:10.134SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
Variantes de NAT2 y fisuras orales: evaluación del riesgo genético y la relativa importancia de los genotipos del embrión y materno
title NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
spellingShingle NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
Santos, María Rita
Antropología
N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC
N-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMC
title_short NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
title_full NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
title_fullStr NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
title_full_unstemmed NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
title_sort NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
dc.creator.none.fl_str_mv Santos, María Rita
Campaña, Hebe
Jurado Medina, Laura Smeldy
Sala, Camila
Muzzio, Marina
López-Camelo, Jorge Santiago
Bailliet, Graciela
author Santos, María Rita
author_facet Santos, María Rita
Campaña, Hebe
Jurado Medina, Laura Smeldy
Sala, Camila
Muzzio, Marina
López-Camelo, Jorge Santiago
Bailliet, Graciela
author_role author
author2 Campaña, Hebe
Jurado Medina, Laura Smeldy
Sala, Camila
Muzzio, Marina
López-Camelo, Jorge Santiago
Bailliet, Graciela
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Antropología
N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC
N-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMC
topic Antropología
N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC
N-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMC
description Non-syndromic cleft lip with or without cleft palate (NSCLP) is a congenital malformation that shows the characteristics of a multifactorial pathology. In order to describe the genetic predisposition to this disorder, NAT genes were analyzed with special interest since they codify for N-acetyltransferases, the enzymes responsible for the biotransformation of arylamines, hydrazine drugs and a great number of toxins and carcinogens present in diet, cigarette smoke and the environment. The allelic transmission of NAT2 that determines the slow acetylator phenotype in 174 trios (case-mother/father) from ECLAMC (Latin American Collaborative Study of Congenital Malformations) maternities in Argentina was evaluated. The *4, *5B, *6, and *7 variants by PCR-RFLP were analyzed. A higher risk for the 5B*5B* genotypes (OR=2. 24; p=0.050) was found, at the expense of the cases from Patagonia, without the influence of the maternal genotype.
publishDate 2019
dc.date.none.fl_str_mv 2019-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Articulo
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/71874
url http://sedici.unlp.edu.ar/handle/10915/71874
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/1853-6387
info:eu-repo/semantics/altIdentifier/doi/10.17139/raab.2019.0021.01.08
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
instacron:UNLP
instname_str Universidad Nacional de La Plata
instacron_str UNLP
institution UNLP
reponame_str SEDICI (UNLP)
collection SEDICI (UNLP)
repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
repository.mail.fl_str_mv alira@sedici.unlp.edu.ar
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