Mi SciELO
Servicios Personalizados
Revista
Articulo
Indicadores
- Citado por SciELO
- Accesos
Links relacionados
- Citado por Google
- Similares en SciELO
- Similares en Google
Compartir
Revista Española de Enfermedades Digestivas
versión impresa ISSN 1130-0108
Resumen
HOLVOET, Sébastien y BLANCHARD, Carine. Genetic and molecular mechanisms leading to eosinophilic esophagitis. Rev. esp. enferm. dig. [online]. 2014, vol.106, n.4, pp.276-280. ISSN 1130-0108.
From the epidemiologic studies, to the first genome wide association study in 2010, the understanding of the molecular pathogenesis of EoE has been both inspiring and puzzling. Epidemiologic studies have highlighted the contribution of the genetic in the EoE disease by emphasizing the presence of familial type of EoE, but has also revealed the complexity of its transmission that does not follow a Mendelian inheritance. The molecular pathogenesis advances have helped in the understanding of the mechanisms underlying this esophageal inflammation but has also allow the identification of candidate genes for which single nucleotide polymorphisms (SNP) are associated with the disease. Recently, the genome wide analysis of more than half a million single nucleotide polymorphism has allowed the identification of gene variations associated with the EoE disease and has led to substantial advance in the understanding of the molecular mechanisms leading to EoE. Undeniably, EoE is a complex polygenic disease and we certainly are only at the ground level of its detailed comprehension.
Palabras clave : Eosinophilic esophagitis; Pathogenesis; Genetic; Polymorphism; Expression.