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Exploring the HLA complex in autoimmunity: From the risk haplotypes to the modulation of expression.
Sartoris, Silvia; Del Pozzo, Giovanna.
Afiliación
  • Sartoris S; Dept. of Medicine, Section of Immunology University of Verona School of Medicine, Verona, Italy.
  • Del Pozzo G; Institute of Genetics and Biophysics "Adriano Buzzati Traverso" National Research Council (CNR), Naples, Italy. Electronic address: giovanna.delpozzo@igb.cnr.it.
Clin Immunol ; 265: 110266, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38851519
ABSTRACT
The genes mapping at the HLA region show high density, strong linkage disequilibrium and high polymorphism, which affect the association of HLA class I and class II genes with autoimmunity. We focused on the HLA haplotypes, genomic structures consisting of an array of specific alleles showing some degrees of genetic association with different autoimmune disorders. GWASs in many pathologies have identified variants in either the coding loci or the flanking regulatory regions, both in linkage disequilibrium in haplotypes, that are frequently associated with increased risk and may influence gene expression. We discuss the relevance of the HLA gene expression because the level of surface heterodimers determines the number of complexes presenting self-antigen and, thus, the strength of pathogenic autoreactive T cells immune response.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Haplotipos / Autoinmunidad / Antígenos HLA Límite: Humans Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Haplotipos / Autoinmunidad / Antígenos HLA Límite: Humans Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos