Marcadores serológicos de la enfermedad celíaca : asociación con polimorfismos de los genes IL10 y MYO9B

We evaluated the utility of biochemical tests in the detection of celiac disease and analyzed the contribution of simple nucleotide polymorphisms on the IL10 and MYO9B genes, involved in the pathogeny of the disease on urban and indigenous populations from Misiones-Argentina. PPV for a-tTG-IgA?100 U...

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Detalles Bibliográficos
Autor principal: López, Miryan Susana
Otros Autores: Zapata, Pedro Darío
Formato: Tesis doctoral acceptedVersion
Lenguaje:Español
Publicado: Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica 2019
Materias:
Enfermedad celíaca
Transglutaminasa
Gen IL10
Gen MYO9B
Polimorfismo genético
Celiac disease
Transglutaminase
IL10 gene
MYO9B gene
Genetic polymorphism
Ciencias de la vida
Acceso en línea:http://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=posgraafa&cl=CL1&d=HWA_6409
https://repositoriouba.sisbi.uba.ar/gsdl/collect/posgraafa/index/assoc/HWA_6409.dir/6409.PDF
Aporte de:
Repositorio Digital de la Universidad de Buenos Aires (UBA) de Universidad de Buenos Aires
Descripción
Sumario:We evaluated the utility of biochemical tests in the detection of celiac disease and analyzed the contribution of simple nucleotide polymorphisms on the IL10 and MYO9B genes, involved in the pathogeny of the disease on urban and indigenous populations from Misiones-Argentina. PPV for a-tTG-IgA?100 U/ml was 100% in children and adults. PPV for a-DGP-IgG?100 U/ml was 93% in children and 100% in adults. The risk of developing celiac disease in the IL10 gene was shown in the polymorphisms rs1800871T/C (OR=2.22 [1.23-4.01], p=0.0073) and rs1800872A/C (OR=2.78 [1.27-6.09], p=0.009), with a dominant model. The risk was associated to females and a-tTG-IgA?100 U/ml concentrations. In the MYO9B gene, it showed a risk of celiac disease the rs2305767C/T polymorphism in CC homozygotes associated with a-tTG-IgA?100 U/ml concentrations (OR=3.36 [1.13-9.99]; p=0.02), a-DGP-IgG ?100 U/ml concentrations (OR=9.25 [1.66-51.28]; p=0.003) and atypical symptomatology (OR=8.81 [2.13-36.3]; p=0.0007). Significant interactions between rs1800871T/C and rs1457092C/A and rs2305767C/T (OR=7.07 [3.00-16.64], p=0.0001) were demonstrated (MDR). In the indigenous population, the a-tTG-IgA and a-DGP-IgG concentrations and the genotypic and allelic frequencies in the polymorphisms of the IL10 and MYO9B genes presented the same behavior as in the urbans controls. This study shows the first celiac patient found in the Mbya-Guaraní population.

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