Bomprezzi Roberto, Ringnér Markus, Kim Seungchan, Bittner Michael L, Khan Javed, Chen Yidong, Elkahloun Abdel, Yu Aimee, Bielekova Bibiana, Meltzer Paul S, Martin Roland, McFarland Henry F, Trent Jeffrey M
Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Drive, Bldg 50 Room 5150, Bethesda, MD 20892-8000, USA.
Hum Mol Genet. 2003 Sep 1;12(17):2191-9. doi: 10.1093/hmg/ddg221. Epub 2003 Jul 8.
Multiple sclerosis (MS) and other T cell-mediated autoimmune diseases develop in individuals carrying a complex susceptibility trait, probably following exposure to various environmental triggers. Owing to the presumed weak influence of single genes on disease predisposition and the recognized genetic heterogeneity of autoimmune disorders in humans, candidate gene searches in MS have been difficult. In an attempt to identify molecular markers indicative of disease status rather than susceptibility genes for MS, we show that gene expression profiling of peripheral blood mononuclear cells by cDNA microarrays can distinguish MS patients from healthy controls. Our findings support the concept that the activation of autoreactive T cells is of primary importance for this complex organ-specific disorder and prompt further investigations on gene expression in peripheral blood cells aimed at characterizing disease phenotypes.
多发性硬化症（MS）和其他T细胞介导的自身免疫性疾病在具有复杂易感性特征的个体中发生，可能是在接触各种环境触发因素之后。由于单个基因对疾病易感性的影响可能较弱，且人类自身免疫性疾病存在公认的遗传异质性，因此在MS中进行候选基因搜索一直很困难。为了识别指示疾病状态而非MS易感基因的分子标记，我们表明通过cDNA微阵列对外周血单核细胞进行基因表达谱分析可以区分MS患者和健康对照。我们的发现支持这样的概念，即自身反应性T细胞的激活对于这种复杂的器官特异性疾病至关重要，并促使针对外周血细胞基因表达进行进一步研究，以表征疾病表型。
