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

作者: Juan-Manuel Anaya , Angélica María Delgado-Vega , John Castiblanco

DOI: 10.1080/17402520600876911

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摘要: Sjogren's syndrome (SS) is a late-onset chronic autoimmune disease (AID) affecting the exocrine glands, mainly salivary and lachrymal. Genetic studies on twins with primary SS have not been performed, only few case reports describing published. The prevalence of in siblings has estimated to be 0.09% while reported general approximately 0.1%. observed aggregation AIDs families patients nevertheless supportive for genetic component its etiology. In absence chromosomal regions identified by linkage studies, research focused candidate gene approaches (by biological plausibility) rather than positional approaches. Ancestral haplotype 8.1 as well TNF, IL10 SSA1 loci consistently associated although they are specific SS. this review, discussed basis three known observations: (a) age at onset sex-dependent presentation, (b) familial clustering disease, (c) dissection component. Since there no strong evidence SS, large international collaborative study would suitable assess genetics disorder.

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