Genome-wide association studies in Sjögren's syndrome: What do the genes tell us about disease pathogenesis?
Genome-wide association studies in Sjögren's syndrome: What do the genes tell us about disease pathogenesis?
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DOI：
10.1016/j.autrev.2014.02.002
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发表时间：
2014-07
影响因子：
13.6
通讯作者：
Alevizos, Ilias
中科院分区：
文献类型：
--
作者：
Burbelo, Peter D.;Arnbatipudi, Kiran;Alevizos, Ilias
关键词：
干燥综合征（SS）的发病机制可能涉及基因和环境之间的复杂相互作用。虽然候选基因的方法以前已被用于确定与SS相关的几个基因，最近的两个大规模的全基因组关联研究（GWAS）涉及更多的基因座作为遗传风险因素。特别相关的是SS与其他免疫相关基因（包括IL12A、BLK和CXCR5）的显著相关性。GWAS还发现了SS中的其他位点和暗示性基因关联，但均与编码唾液或泪腺成分、分泌机制和参与腺体神经支配的神经元蛋白的基因无关。在这篇综述中，我们讨论了这些遗传学研究结果，特别注意识别的基因，协会的强度，以及SS相关基因如何与以前在系统性红斑狼疮（SLE）中发现的基因进行比较。我们还总结了这些相关基因产物对NFκB和免疫通路的潜在影响，并描述了如何将这些新信息进一步整合，以确定临床亚型和了解SS的发病机制。
The pathogenesis of Sjögren’s syndrome (SS) likely involves complex interactions between genes and the environment. While the candidate gene approach has been previously used to identify several genes associated with SS, two recent large-scale genome-wide association studies (GWAS) have implicated many more loci as genetic risk factors. Of particular relevance, was the significant association of SS with additional immune-related genes including IL12A, BLK, and CXCR5. GWAS has also uncovered other loci and suggestive gene associations in SS, but none are related to genes encoding salivary or lacrimal components, secretion machinery and neuronal proteins involved in innervations of the glands, respectively. In this review, we discuss these genetic findings with particular attention paid to the genes identified, the strength of associations, and how the SS-associated genes compare to what has been discovered previously in systemic lupus erythematosus (SLE). We also summarize the potential impact of these associated gene products on NFκB and immune pathways and describe how this new information might be integrated further for identifying clinical subsets and understanding the pathogenesis of SS.
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DOI：
10.1038/nri2413
发表时间：
2008-11
期刊：
Nature reviews. Immunology
影响因子：
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作者：
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通讯作者：
Morse HC 3rd
影响因子：
9.1
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DOI：
10.1038/nrrheum.2010.176
发表时间：
2010-12
期刊：
Nature reviews. Rheumatology
影响因子：
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作者：
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影响因子：
30.8
作者：
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通讯作者：
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影响因子：
20.3
作者：
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通讯作者：
Mariette, Xavier