Gene expression and chromosomal location for susceptibility to Sjögren's syndrome.
作者： Paola Pérez , Juan-Manuel Anaya , Sergio Aguilera , Ulises Urzúa , David Munroe
DOI: 10.1016/J.JAUT.2009.05.001
关键词:
摘要: Primary Sjogren's syndrome (SS) is a chronic inflammatory autoimmune disease affecting mainly the exocrine glands. Its physio-pathology poorly understood and most of knowledge has been related to component. The aim this work was evaluate gene expression profiling in fractions enriched epithelial cells from labial salivary glands (LSGs) patients with primary SS identify chromosomal regions harboring susceptibility genes expressed cells. A combined approach genome-wide association study used. Enriched cell were obtained LSGs controls. Amplified total RNA labeled hybridized 10K cDNA microarrays. Results normalized subjected statistical functional analysis. microsatellite screen at 10 cM resolution (393 markers) performed. In gland-epithelial 528 differentially comparison Pathways not previously linked found be altered. Twenty-eight 15 associated apoptosis up-regulated down regulated, respectively. Interferon-related genes, which participated interferon signaling, also up-regulated. From screen, 6 markers showed evidence highly significant disease. Of these, five loci harbor LSG-epithelial Our results show that pSS, both pro-apoptotic/anti-apoptotic signaling inhibition/stimulation balances may occur. Genes over-expressed are candidates for susceptibility.
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