Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence?

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 primar...

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Main Authors: Juan-Manuel Anaya, Angélica María Delgado-Vega, John Castiblanco
Format: Article
Language:English
Published: Wiley 2006-01-01
Series:Clinical and Developmental Immunology
Online Access:http://dx.doi.org/10.1080/17402520600876911
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author Juan-Manuel Anaya
Angélica María Delgado-Vega
John Castiblanco
author_facet Juan-Manuel Anaya
Angélica María Delgado-Vega
John Castiblanco
author_sort Juan-Manuel Anaya
collection DOAJ
description 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.
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spelling doaj-art-2907dfee035c46ed8e4d3d2b0c7734872025-02-03T05:50:18ZengWileyClinical and Developmental Immunology1740-25221740-25302006-01-01132-420922210.1080/17402520600876911Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence?Juan-Manuel Anaya0Angélica María Delgado-Vega1John Castiblanco2Cellular Biology and Immunogenetics Unit, Corporación para Investigaciones Biológicas, Medellín, ColombiaCellular Biology and Immunogenetics Unit, Corporación para Investigaciones Biológicas, Medellín, ColombiaCellular Biology and Immunogenetics Unit, Corporación para Investigaciones Biológicas, Medellín, ColombiaSjögren'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.http://dx.doi.org/10.1080/17402520600876911
spellingShingle Juan-Manuel Anaya
Angélica María Delgado-Vega
John Castiblanco
Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence?
Clinical and Developmental Immunology
title 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_short Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence?
title_sort genetic basis of sjogren s syndrome how strong is the evidence
url http://dx.doi.org/10.1080/17402520600876911
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