Publication: Estudios moleculares en enfermedad celíaca: hacia un mejor diagnóstico y conocimiento de la enfermedad
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2017-08-30
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Universidad Complutense de Madrid
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Abstract
La enfermedad celiaca (EC) es una enfermedad sistémica mediada por el sistema inmune y provocada por el gluten que se puede desarrollar en individuos de cualquier edad, aunque presenta bastantes diferencias según el debut se produzca en la infancia o en la edad adulta. Es una enfermedad poligénica, con la principal asociación genética en la región HLA y numerosas variantes de bajo riesgo distribuidas por todo el genoma descritas gracias a los estudios de barrido genómico (GWAS). La mayor parte de estas variantes se encuentran en regiones no codificantes del genoma, muchas de ellas se cree que afectando a la expresión génica. Los GWAS han puesto además de manifiesto la existencia de una base genética compartida entre enfermedades autoinmunes. El diagnóstico de EC se basa en criterios clínicos, histológicos, serológicos y genéticos bien establecidos, que en su mayoría necesitan que el paciente esté en dieta con gluten. A pesar de ello, muchos pacientes presentan un diagnóstico complejo. Debido a esto, se hace necesario profundizar en el estudio de estos pacientes, así como desarrollar nuevos métodos diagnósticos...
Celiac disease (CD) is a systemic immune-mediated disease triggered by gluten that can be developed in individuals of any age, although there are several differences depending on a childhood or adulthood onset exists. It is a polygenic disease, being the strongest genetic association with the HLA region, and existing numerous low-risk variants distributed throughout the genome and described by genome wide association studies (GWAS). Most of these variants are in non-coding regions of the genome and many of them are believed to affect gene expression. Furthermore, GWAS have revealed the existence of a shared genetic basis among autoimmune diseases. CD diagnosis is based on well-established clinical, histological, serological and genetic criteria, most of them needing that patients follow a gluten containing diet. Despite that, many patients present a complex diagnosis. Therefore, it is necessary to deepen on the study of these patients, as well as develop new diagnostic tools...
Celiac disease (CD) is a systemic immune-mediated disease triggered by gluten that can be developed in individuals of any age, although there are several differences depending on a childhood or adulthood onset exists. It is a polygenic disease, being the strongest genetic association with the HLA region, and existing numerous low-risk variants distributed throughout the genome and described by genome wide association studies (GWAS). Most of these variants are in non-coding regions of the genome and many of them are believed to affect gene expression. Furthermore, GWAS have revealed the existence of a shared genetic basis among autoimmune diseases. CD diagnosis is based on well-established clinical, histological, serological and genetic criteria, most of them needing that patients follow a gluten containing diet. Despite that, many patients present a complex diagnosis. Therefore, it is necessary to deepen on the study of these patients, as well as develop new diagnostic tools...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Microbiología I, leída el 01-12-2016