Cifuentes Ricardo A, Restrepo-Montoya Daniel, Anaya Juan-Manuel
Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24, No. 63-69 piso 3, Bogotá, Colombia.
Autoimmune Dis. 2012;2012:792106. doi: 10.1155/2012/792106. Epub 2012 Mar 5.
There is genetic evidence of similarities and differences among autoimmune diseases (AIDs) that warrants looking at a general panorama of what has been published. Thus, our aim was to determine the main shared genes and to what extent they contribute to building clusters of AIDs. We combined a text-mining approach to build clusters of genetic concept profiles (GCPs) from the literature in MedLine with knowledge of protein-protein interactions to confirm if genes in GCP encode proteins that truly interact. We found three clusters in which the genes with the highest contribution encoded proteins that showed strong and specific interactions. After projecting the AIDs on a plane, two clusters could be discerned: Sjögren's syndrome-systemic lupus erythematosus, and autoimmune thyroid disease-type1 diabetes-rheumatoid arthritis. Our results support the common origin of AIDs and the role of genes involved in apoptosis such as CTLA4, FASLG, and IL10.
自身免疫性疾病（AIDs）之间存在相似性和差异的遗传学证据，这使得有必要审视已发表文献的总体情况。因此，我们的目的是确定主要的共享基因以及它们在构建自身免疫性疾病集群中所起作用的程度。我们结合了文本挖掘方法，从MedLine文献中构建遗传概念图谱（GCPs）集群，并利用蛋白质-蛋白质相互作用的知识来确认GCP中的基因是否编码真正相互作用的蛋白质。我们发现了三个集群，其中贡献最大的基因编码的蛋白质表现出强烈且特定的相互作用。将自身免疫性疾病投影到一个平面上后，可以辨别出两个集群：干燥综合征-系统性红斑狼疮，以及自身免疫性甲状腺疾病-1型糖尿病-类风湿关节炎。我们的结果支持自身免疫性疾病的共同起源以及参与细胞凋亡的基因（如CTLA4、FASLG和IL10）的作用。
