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Human Molecular Genetics Advance Access published online on July 8, 2003

Human Molecular Genetics, doi:10.1093/hmg/ddg221
© 2003 by Oxford University Press
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©2003 Oxford University Press

Article

Gene Expression Profile in Multiple Sclerosis Patients and Healthy Controls: Identifying Pathways Relevant to Disease

Roberto Bomprezzi 1*, Markus Ringnér 2, Seungchan Kim 3, Michael L. Bittner 3, Javed Khan 4, Yidong Chen 5, Abdel Elkahloun 5, Aimee Yu 6, Bibiana Bielekova 6, Paul S. Meltzer 5, Roland Martin 6, Henry F. McFarland 6, and Jeffrey M. Trent 7

1 Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Drive, Bldg 50 Room 5150, Bethesda, Maryland 20892, USA
2 Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; Dept. of Theoretical Physics, Lund University, SE-223 62 Lund, Sweden
3 Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
4 Advanced Technology Center, National Cancer Institute, National Institutes of Health, Gaithersburg, Maryland 20877, USA
5 Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
6 Neuroimmunology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
7 Translational Genomics Research Institute, Phoenix, Arizona 85004, USA

* To whom correspondence should be addressed. E-mail: rbomprez{at}nhgri.nih.gov.


   Abstract

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. Due 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.


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