Gene expression patterns in the bone tissue of women with fibrous dysplasiaJános Kiss and Bernadett Balla contributed equally to this work.All the authors hereby state that they do not possess financial interests and they have no Conflicts of interest.How to Cite this Article: Kiss J, Balla B, Kósa JP, Borsy A, Podani J, Takács I, Lazáry Á, Nagy Z, Bácsi K, Kis A, Szlávy E, Szendri M, Speer G, Orosz L, Lakatos P. 2010. Gene expression patterns in the bone tissue of women with fibrous dysplasia. Am J Med Genet Part A 152A:2211–2220.

Fibrous dysplasia is an isolated skeletal disorder caused by a somatic activating mutation of GNASgene with abnormal unmineralized matrix overproduction and extensive undifferentiated bone cell accumulation in the fibroosseous lesions. The aim of our investigation was to identify genes that are differently expressed in fibrous versus nonfibrous human bone and to describe the relationships between these genes using multivariate data analysis. Six bone tissue samples from female patients with fibrous dysplastia FD and seven bone tissue samples from women without FD nonFD were examined. The expression differences of selected 118 genes were analyzed by the TaqMan probebased quantitative realtime RTPCR system. The Mann–Whitney Utest indicated marked differences in the expression of 22 genes between FD and nonFD individuals. Nine genes were upregulated in FD women compared to nonFD ones and 18 genes showed a downregulated pattern. These altered genes code for minor collagen molecules, extracellular matrix digesting enzymes, transcription factors, adhesion molecules, growth factors, proinflammatory cytokines, and lipid metabolismaffected substrates. Canonical variates analysis demonstrated that FD and nonFD bone tissues can be distinguished by the multiple expression profile analysis of numerous genes controlled via a Gprotein coupled pathway and BMP cascade as well as genes coding for extracellular matrix composing molecules. The remarkable changed gene expression profile observed in the fibrous dysplastic human bone tissue may provide further insight into the pathogenetic process of fibrous degeneration of bone. © 2010 WileyLiss, Inc.