Genetic basis of Sjögren's syndrome. How strong is the evidence?

ABSTRACT: Sjögren's syndrome (SS) is a late-onset chronic autoimmune disease (AID) affecting the exocrine glands, mainly the salivary and lachrymal. Genetic studies on twins with primary SS have not been performed, and only a few case reports describing twins have been published. The prevalence...

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Autores:
Anaya Cabrera, Juan Manuel
Delgado Vega, Angélica María
Castiblanco Quinche, John Enrique
Tipo de recurso:
Review article
Fecha de publicación:
2006
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/32159
Acceso en línea:
https://hdl.handle.net/10495/32159
Palabra clave:
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Síndrome de Sjögren
Sjogren's Syndrome
Antígenos HLA
HLA Antigens
Antígenos de Histocompatibilidad Clase II
Histocompatibility Antigens Class II
Rights
openAccess
License
http://creativecommons.org/licenses/by/2.5/co/
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network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv Genetic basis of Sjögren's syndrome. How strong is the evidence?
title Genetic basis of Sjögren's syndrome. How strong is the evidence?
spellingShingle Genetic basis of Sjögren's syndrome. How strong is the evidence?
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Síndrome de Sjögren
Sjogren's Syndrome
Antígenos HLA
HLA Antigens
Antígenos de Histocompatibilidad Clase II
Histocompatibility Antigens Class II
title_short Genetic basis of Sjögren's syndrome. How strong is the evidence?
title_full Genetic basis of Sjögren's syndrome. How strong is the evidence?
title_fullStr Genetic basis of Sjögren's syndrome. How strong is the evidence?
title_full_unstemmed Genetic basis of Sjögren's syndrome. How strong is the evidence?
title_sort Genetic basis of Sjögren's syndrome. How strong is the evidence?
dc.creator.fl_str_mv Anaya Cabrera, Juan Manuel
Delgado Vega, Angélica María
Castiblanco Quinche, John Enrique
dc.contributor.author.none.fl_str_mv Anaya Cabrera, Juan Manuel
Delgado Vega, Angélica María
Castiblanco Quinche, John Enrique
dc.subject.decs.none.fl_str_mv Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Síndrome de Sjögren
Sjogren's Syndrome
Antígenos HLA
HLA Antigens
Antígenos de Histocompatibilidad Clase II
Histocompatibility Antigens Class II
topic Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Síndrome de Sjögren
Sjogren's Syndrome
Antígenos HLA
HLA Antigens
Antígenos de Histocompatibilidad Clase II
Histocompatibility Antigens Class II
description ABSTRACT: Sjögren's syndrome (SS) is a late-onset chronic autoimmune disease (AID) affecting the exocrine glands, mainly the salivary and lachrymal. Genetic studies on twins with primary SS have not been performed, and only a few case reports describing twins have been published. The prevalence of primary SS in siblings has been estimated to be 0.09% while the reported general prevalence of the disease is approximately 0.1%. The observed aggregation of AIDs in families of patients with primary SS is nevertheless supportive for a genetic component in its etiology. In the absence of chromosomal regions identified by linkage studies, research has focused on candidate gene approaches (by biological plausibility) rather than on positional approaches. Ancestral haplotype 8.1 as well as TNF, IL10 and SSA1 loci have been consistently associated with the disease although they are not specific for SS. In this review, the genetic component of SS is discussed on the basis of three known observations: (a) age at onset and sex-dependent presentation, (b) familial clustering of the disease, and (c) dissection of the genetic component. Since there is no strong evidence for a specific genetic component in SS, a large international and collaborative study would be suitable to assess the genetics of this disorder.
publishDate 2006
dc.date.issued.none.fl_str_mv 2006
dc.date.accessioned.none.fl_str_mv 2022-11-21T13:25:39Z
dc.date.available.none.fl_str_mv 2022-11-21T13:25:39Z
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dc.identifier.citation.spa.fl_str_mv Anaya JM, Delgado-Vega AM, Castiblanco J. Genetic basis of Sjögren's syndrome. How strong is the evidence? Clin Dev Immunol. 2006 Jun-Dec;13(2-4):209-22. doi: 10.1080/17402520600876911.
dc.identifier.issn.none.fl_str_mv 1740-2522
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/10495/32159
dc.identifier.doi.none.fl_str_mv 10.1080/17402520600876911
dc.identifier.eissn.none.fl_str_mv 1740-2530
identifier_str_mv Anaya JM, Delgado-Vega AM, Castiblanco J. Genetic basis of Sjögren's syndrome. How strong is the evidence? Clin Dev Immunol. 2006 Jun-Dec;13(2-4):209-22. doi: 10.1080/17402520600876911.
1740-2522
10.1080/17402520600876911
1740-2530
url https://hdl.handle.net/10495/32159
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Clin. Dev. Immunol.
dc.rights.spa.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.spa.fl_str_mv Taylor & Francis
dc.publisher.group.spa.fl_str_mv Biología Celular y Molecular CIB U. de A. U. del Rosario
dc.publisher.place.spa.fl_str_mv Abingdon, Inglaterra
institution Universidad de Antioquia
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spelling Anaya Cabrera, Juan ManuelDelgado Vega, Angélica MaríaCastiblanco Quinche, John Enrique2022-11-21T13:25:39Z2022-11-21T13:25:39Z2006Anaya JM, Delgado-Vega AM, Castiblanco J. Genetic basis of Sjögren's syndrome. How strong is the evidence? Clin Dev Immunol. 2006 Jun-Dec;13(2-4):209-22. doi: 10.1080/17402520600876911.1740-2522https://hdl.handle.net/10495/3215910.1080/174025206008769111740-2530ABSTRACT: Sjögren's syndrome (SS) is a late-onset chronic autoimmune disease (AID) affecting the exocrine glands, mainly the salivary and lachrymal. Genetic studies on twins with primary SS have not been performed, and only a few case reports describing twins have been published. The prevalence of primary SS in siblings has been estimated to be 0.09% while the reported general prevalence of the disease is approximately 0.1%. The observed aggregation of AIDs in families of patients with primary SS is nevertheless supportive for a genetic component in its etiology. In the absence of chromosomal regions identified by linkage studies, research has focused on candidate gene approaches (by biological plausibility) rather than on positional approaches. Ancestral haplotype 8.1 as well as TNF, IL10 and SSA1 loci have been consistently associated with the disease although they are not specific for SS. In this review, the genetic component of SS is discussed on the basis of three known observations: (a) age at onset and sex-dependent presentation, (b) familial clustering of the disease, and (c) dissection of the genetic component. Since there is no strong evidence for a specific genetic component in SS, a large international and collaborative study would be suitable to assess the genetics of this disorder.COL000096215application/pdfengTaylor & FrancisBiología Celular y Molecular CIB U. de A. U. del RosarioAbingdon, Inglaterrainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_dcae04bchttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTREVArtículo de revisiónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by/4.0/Genetic basis of Sjögren's syndrome. How strong is the evidence?Predisposición Genética a la EnfermedadGenetic Predisposition to DiseaseSíndrome de SjögrenSjogren's SyndromeAntígenos HLAHLA AntigensAntígenos de Histocompatibilidad Clase IIHistocompatibility Antigens Class IIClin. Dev. Immunol.Clinical and Developmental Immunology209222133-4ORIGINALAnayaJuan_2006_SjogrensSyndromeEvidence.pdfAnayaJuan_2006_SjogrensSyndromeEvidence.pdfArtículo de revisiónapplication/pdf1390317https://bibliotecadigital.udea.edu.co/bitstream/10495/32159/1/AnayaJuan_2006_SjogrensSyndromeEvidence.pdf175e9fbc245e899056541e3aa7292f9cMD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8927https://bibliotecadigital.udea.edu.co/bitstream/10495/32159/2/license_rdf1646d1f6b96dbbbc38035efc9239ac9cMD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748https://bibliotecadigital.udea.edu.co/bitstream/10495/32159/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD5310495/32159oai:bibliotecadigital.udea.edu.co:10495/321592022-11-21 08:25:40.264Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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