Asthma: Genetic polymorphisms associated to the risk of suffering the pathology in children from Córdoba

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Asthma is the most frequent chronic respiratory non-transmissible disease in children, where most of the exacerbations obey to an external trigger. Immune function associated genes are potentially involved in asthma. A considerable number of Single Nucleotide Polymorphisms (SNPs) have been detected...

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Autores principales: Rodríguez , M, Orellana, J, Skrie, V, Pogonza, E, Muiño , J C, Lauria , M J, Blanco , A, Pereira , B M I
Formato: Artículo revista
Lenguaje:Español
Publicado: Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2019
Materias:
asthma
polimorphisms
pediatrics
asma
polimorfismos
pediatría
Acceso en línea:https://revistas.unc.edu.ar/index.php/med/article/view/25656
Aporte de:
Revistas de la UNC de Universidad Nacional de Córdoba
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institution Universidad Nacional de Córdoba
institution_str I-10
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container_title_str Revistas de la UNC
language Español
format Artículo revista
topic asthma
polimorphisms
pediatrics
asma
polimorfismos
pediatría
spellingShingle asthma
polimorphisms
pediatrics
asma
polimorfismos
pediatría
Rodríguez , M
Orellana, J
Skrie, V
Pogonza, E
Muiño , J C
Lauria , M J
Blanco , A
Pereira , B M I
Asthma: Genetic polymorphisms associated to the risk of suffering the pathology in children from Córdoba
topic_facet asthma
polimorphisms
pediatrics
asma
polimorfismos
pediatría
author Rodríguez , M
Orellana, J
Skrie, V
Pogonza, E
Muiño , J C
Lauria , M J
Blanco , A
Pereira , B M I
author_facet Rodríguez , M
Orellana, J
Skrie, V
Pogonza, E
Muiño , J C
Lauria , M J
Blanco , A
Pereira , B M I
author_sort Rodríguez , M
title Asthma: Genetic polymorphisms associated to the risk of suffering the pathology in children from Córdoba
title_short Asthma: Genetic polymorphisms associated to the risk of suffering the pathology in children from Córdoba
title_full Asthma: Genetic polymorphisms associated to the risk of suffering the pathology in children from Córdoba
title_fullStr Asthma: Genetic polymorphisms associated to the risk of suffering the pathology in children from Córdoba
title_full_unstemmed Asthma: Genetic polymorphisms associated to the risk of suffering the pathology in children from Córdoba
title_sort asthma: genetic polymorphisms associated to the risk of suffering the pathology in children from córdoba
description Asthma is the most frequent chronic respiratory non-transmissible disease in children, where most of the exacerbations obey to an external trigger. Immune function associated genes are potentially involved in asthma. A considerable number of Single Nucleotide Polymorphisms (SNPs) have been detected in genome-wide association studies (GWA) and can be responsible for changes in the genetic expression (increase, decrease or no effect) in order to induce asthma. The objective was to analyze the presence of two SNP (rs7216389- chromosome 17q21- and rs2786098 –chromosome 1q31) in children diagnosed with asthma in the Allergy and Immunological division from the Children’s Hospital in Córdoba. Children of both sexes, under 18 years old, diagnosed with asthma were studied and according to the information obtained in the history, physical examination and PRICK tests were included as problem group (GP) (n=32). Control group (GC) (n=28) were healthy children under 18 years old. After the parents signed the informed consent and the children older than 7 gave their consent to participate in the work, blood samples were taken for DNA extraction, PCR performance and SNP rs 7216389 and 2786098 determination through digestion with restriction enzymes NsiI and HhaI respectively. From the restriction analysis, the frequencies of the different genotypes in the studied groups were obtained. Alleles with a cutting site were designated n and h for NsiI and HhaI and without a cutting site N and H for NsiI and HhaI respectively. At the HhaI polymorphic site, the Hh genotype was more abundant in GC than in GP (50,0% vs. 12,5%). On the other hand, the hh genotype was more abundant in the GP than in the GC (78,12% vs. 28,57% respectively). In the NsiI polymorphic site the groups showed a similar genotypic distribution. The allelic and genotypic frequencies for the two SNP rs 7216389 and 2786098 were established in the two case-control study populations from a sample from the city of Córdoba, Argentina. The association of these polymorphisms to the risk of suffering asthma in childhood was evidenced, being important for the future development of primary preventive strategies for the disease.
publisher Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
publishDate 2019
url https://revistas.unc.edu.ar/index.php/med/article/view/25656
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spelling I10-R10-article-256562019-11-11T21:18:27Z Asthma: Genetic polymorphisms associated to the risk of suffering the pathology in children from Córdoba Asma: polimorfismos relacionados con la predisposición a la patología en niños de Córdoba Rodríguez , M Orellana, J Skrie, V Pogonza, E Muiño , J C Lauria , M J Blanco , A Pereira , B M I asthma polimorphisms pediatrics asma polimorfismos pediatría Asthma is the most frequent chronic respiratory non-transmissible disease in children, where most of the exacerbations obey to an external trigger. Immune function associated genes are potentially involved in asthma. A considerable number of Single Nucleotide Polymorphisms (SNPs) have been detected in genome-wide association studies (GWA) and can be responsible for changes in the genetic expression (increase, decrease or no effect) in order to induce asthma. The objective was to analyze the presence of two SNP (rs7216389- chromosome 17q21- and rs2786098 –chromosome 1q31) in children diagnosed with asthma in the Allergy and Immunological division from the Children’s Hospital in Córdoba. Children of both sexes, under 18 years old, diagnosed with asthma were studied and according to the information obtained in the history, physical examination and PRICK tests were included as problem group (GP) (n=32). Control group (GC) (n=28) were healthy children under 18 years old. After the parents signed the informed consent and the children older than 7 gave their consent to participate in the work, blood samples were taken for DNA extraction, PCR performance and SNP rs 7216389 and 2786098 determination through digestion with restriction enzymes NsiI and HhaI respectively. From the restriction analysis, the frequencies of the different genotypes in the studied groups were obtained. Alleles with a cutting site were designated n and h for NsiI and HhaI and without a cutting site N and H for NsiI and HhaI respectively. At the HhaI polymorphic site, the Hh genotype was more abundant in GC than in GP (50,0% vs. 12,5%). On the other hand, the hh genotype was more abundant in the GP than in the GC (78,12% vs. 28,57% respectively). In the NsiI polymorphic site the groups showed a similar genotypic distribution. The allelic and genotypic frequencies for the two SNP rs 7216389 and 2786098 were established in the two case-control study populations from a sample from the city of Córdoba, Argentina. The association of these polymorphisms to the risk of suffering asthma in childhood was evidenced, being important for the future development of primary preventive strategies for the disease. El asma es la enfermedad no transmisible más frecuente en niños donde las exacerbaciones pueden ser por un desencadenante externo. Hay genes asociados a la función inmune  potencialmente involucrados en el asma. En estudios de rastreo genómico (GWA) se han detectado un número considerable de polimorfismos de nucleótidos simples (SNP) y pueden ser responsables de cambios en la expresión de genes para inducir asma. El objetivo fue determinar la presencia de dos SNP (rs7216389- cromosoma 17q21- y rs2786098 –cromosoma 1q31) en niños con diagnóstico de asma en la División de Alergia e Inmunología, Hospital de Niños de Córdoba. Se estudiaron niños de ambos sexos, menores de 18 años, con diagnóstico de asma, según la información obtenida en la anamnesis, examen físico y PRICK tests fueron incluidos como grupo problema (GP) (n=32). El grupo control (GC) (n=28) fueron niños menores de 18 años. Luego que los padres firmaron el consentimiento informado y los niños mayores a 7 años dieron su asentimiento para participar del trabajo, se tomaron muestras de sangre para la extracción de ADN, realización de PCR y la determinación de los SNP rs 7216389 y 2786098 a través de la digestión con enzimas de restricción NsiI y HhaI respectivamente. Del análisis de restricción se obtuvieron las frecuencias de los diferentes genotipos en los grupos estudiados. Los alelos con sitio de corte se designaron n y h para NsiI y HhaI y sin sitio de corte N y H para NsiI y HhaI respectivamente. En el sitio polimórfico HhaI, el genotipo Hh fue más abundante en GC que en GP (50,0% vs. 12,5%). Por el contrario, el genotipo hh fue más abundante en GP respecto a GC (78,12% vs. 28,57% respectivamente). En el sitio polimórfico NsiI los grupos mostraron una distribución genotípica semejante. Se establecieron las frecuencias alélicas y genotípicas para los dos SNP rs 7216389 y 2786098 en los grupos estudiados. Se evidenció la asociación de estos polimorfismos con el riesgo de padecer asma en la infancia, siendo importantes para el futuro desarrollo de estrategias preventivas primarias para la enfermedad Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2019-10-10 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/25656 Revista de la Facultad de Ciencias Médicas de Córdoba.; 2019: Suplemento JIC XX Revista de la Facultad de Ciencias Médicas de Córdoba; 2019: Suplemento JIC XX Revista da Faculdade de Ciências Médicas de Córdoba; 2019: Suplemento JIC XX 1853-0605 0014-6722 spa https://revistas.unc.edu.ar/index.php/med/article/view/25656/27373 Derechos de autor 2019 Universidad Nacional de Córdoba

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