Systemic and cell type-specific gene expression patterns in scleroderma skin

Michael L. Whitfield, Deborah R. Finlay, John Isaac Murray, Olga G. Troyanskaya, Jen Tsan Chi, Alexander Pergamenschikov, Timothy H. McCalmont, Patrick O. Brown, David Botstein, M. Kari Connolly

Research output: Contribution to journalArticlepeer-review

369 Scopus citations


We used DNA microarrays representing >12,000 human genes to characterize gene expression patterns in skin biopsies from individuals with a diagnosis of systemic sclerosis with diffuse scleroderma. We found consistent differences in the patterns of gene expression between skin biopsies from individuals with scleroderma and those from normal, unaffected individuals. The biopsies from affected individuals showed nearly indistinguishable patterns of gene expression in clinically affected and clinically unaffected tissue, even though these were clearly distinguishable from the patterns found in similar tissue from unaffected individuals. Genes characteristically expressed in endothelial cells, B lymphocytes, and fibroblasts showed differential expression between scleroderma and normal biopsies. Analysis of lymphocyte populations in scleroderma skin biopsies by immunohistochemistry suggest the B lymphocyte signature observed on our arrays is from CD20+ B cells. These results provide evidence that scleroderma has systemic manifestations that affect multiple cell types and suggests genes that could be used as potential markers for the disease.

Original languageEnglish (US)
Pages (from-to)12319-12324
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number21
StatePublished - Oct 14 2003

All Science Journal Classification (ASJC) codes

  • General


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