Is there a common genetic basis for autoimmune diseases?

Autoimmune diseases (ADs) represent a diverse collection of diseases in terms of their demographic profile and primary clinical manifestations. The commonality between them however, is the damage to tissues and organs that arises from the response to self-antigens. The presence of shared pathophysio...

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Autores Principales: Anaya, Juan-Manuel, Gómez, Luis Miguel, Castiblanco, John
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Universidad del Rosario 2006
Materias:
Acceso en línea:http://repository.urosario.edu.co/handle/10336/8767
https://doi.org/10.1080/17402520600876762
id ir-10336-8767
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spelling ir-10336-87672020-05-10T04:11:11Z Is there a common genetic basis for autoimmune diseases? Anaya, Juan-Manuel Gómez, Luis Miguel Castiblanco, John Enfermedades genetics inheritance patterns Sjögren's syndrome Type 1 diabetes mellitus Genética Inmunología Enfermedades autoinmunes Autoimmune diseases (ADs) represent a diverse collection of diseases in terms of their demographic profile and primary clinical manifestations. The commonality between them however, is the damage to tissues and organs that arises from the response to self-antigens. The presence of shared pathophysiological mechanisms within ADs has stimulated searches for common genetic roots to these diseases. Two approaches have been undertaken to sustain the “common genetic origin” theory of ADs. Firstly, a clinical genetic analysis showed that autoimmunity aggregates within families of probands diagnosed with primary Sjögren's (pSS) syndrome or type 1 diabetes mellitus (T1D). A literature review supported the establishment of a familiar cluster of ADs depending upon the proband's disease phenotype. Secondly, in a same and well-defined population, a large genetic association study indicated that a number of polymorphic genes (i.e. HLA-DRB1, TNF and PTPN22) influence the susceptibility for acquiring different ADs. Likewise, association and linkage studies in different populations have revealed that several susceptibility loci overlap in ADs, and clinical studies have shown that frequent clustering of several ADs occurs. Thus, the genetic factors for ADs consist of two types: those which are common to many ADs (acting in epistatic pleitropy) and those that are specific to a given disorder. Their identification and functional characterization will allow us to predict their effect as well as to indicate potential new therapeutic interventions. Both autoimmunity family history and the co-occurrence of ADs in affected probands should be considered when performing genetic association and linkage studies. 2006-06 2014-08-11T15:47:24Z info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion ISSN:1740-2522 http://repository.urosario.edu.co/handle/10336/8767 https://doi.org/10.1080/17402520600876762 eng info:eu-repo/semantics/openAccess application/pdf Universidad del Rosario reponame:Repositorio Institucional EdocUR instname:Universidad del Rosario
institution EdocUR - Universidad del Rosario
collection DSpace
language Inglés (English)
topic Enfermedades
genetics
inheritance patterns
Sjögren's syndrome
Type 1 diabetes mellitus
Genética
Inmunología
Enfermedades autoinmunes
spellingShingle Enfermedades
genetics
inheritance patterns
Sjögren's syndrome
Type 1 diabetes mellitus
Genética
Inmunología
Enfermedades autoinmunes
Anaya, Juan-Manuel
Gómez, Luis Miguel
Castiblanco, John
Is there a common genetic basis for autoimmune diseases?
description Autoimmune diseases (ADs) represent a diverse collection of diseases in terms of their demographic profile and primary clinical manifestations. The commonality between them however, is the damage to tissues and organs that arises from the response to self-antigens. The presence of shared pathophysiological mechanisms within ADs has stimulated searches for common genetic roots to these diseases. Two approaches have been undertaken to sustain the “common genetic origin” theory of ADs. Firstly, a clinical genetic analysis showed that autoimmunity aggregates within families of probands diagnosed with primary Sjögren's (pSS) syndrome or type 1 diabetes mellitus (T1D). A literature review supported the establishment of a familiar cluster of ADs depending upon the proband's disease phenotype. Secondly, in a same and well-defined population, a large genetic association study indicated that a number of polymorphic genes (i.e. HLA-DRB1, TNF and PTPN22) influence the susceptibility for acquiring different ADs. Likewise, association and linkage studies in different populations have revealed that several susceptibility loci overlap in ADs, and clinical studies have shown that frequent clustering of several ADs occurs. Thus, the genetic factors for ADs consist of two types: those which are common to many ADs (acting in epistatic pleitropy) and those that are specific to a given disorder. Their identification and functional characterization will allow us to predict their effect as well as to indicate potential new therapeutic interventions. Both autoimmunity family history and the co-occurrence of ADs in affected probands should be considered when performing genetic association and linkage studies.
format Artículo (Article)
author Anaya, Juan-Manuel
Gómez, Luis Miguel
Castiblanco, John
author_facet Anaya, Juan-Manuel
Gómez, Luis Miguel
Castiblanco, John
author_sort Anaya, Juan-Manuel
title Is there a common genetic basis for autoimmune diseases?
title_short Is there a common genetic basis for autoimmune diseases?
title_full Is there a common genetic basis for autoimmune diseases?
title_fullStr Is there a common genetic basis for autoimmune diseases?
title_full_unstemmed Is there a common genetic basis for autoimmune diseases?
title_sort is there a common genetic basis for autoimmune diseases?
publisher Universidad del Rosario
publishDate 2006
url http://repository.urosario.edu.co/handle/10336/8767
https://doi.org/10.1080/17402520600876762
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score 12,131701