Transcriptomics

Dataset Information

15

Calvarial osteoblast transcriptome analysis identifies genetic targets and extracellular matrix-mediated focal adhesion as potential biomarkers for single-suture craniosynostosis


ABSTRACT: Craniosynostosis is a disease defined by premature fusion of one or more cranial sutures. The mechanistic pathology of isolated single-suture craniosynostosis is complex and while a number of genetic biomarkers and environmental predispositions have been identified, in many cases the causes remain controversial and inconclusive at best. After controlling for variables contributing to potential bias, FGF7, SFRP4, and VCAM1 emerged as potential genetic biomarkers for single-suture craniosynostosis due to their significantly large changes in gene expression compared to the control population. Furthermore, pathway analysis implicated focal adhesion and extracellular matrix (ECM)-receptor interaction as differentially regulated gene networks when comparing all cases of single-suture synostosis and controls. Lastly, overall gene expression was found to be highly conserved between coronal and metopic cases, as evidenced by the fact that WNT2 and IGFBP2 were the only differentially regulated genes identified in a direct comparison. These results not only confirm the roles of previously reported craniosynostosis-related targets but also introduce novel genetic biomarkers and pathways that may play critical roles in its pathogenesis. In this study, gene expression data from 199 patients with isolated sagittal (n= 100), unilateral coronal (n = 50), and metopic (n = 49) synostosis are compared against both a control population (n = 50), as well as each other.

ORGANISM(S): Homo sapiens  

SUBMITTER: Michael L Cunningham   Sarah S Park  Brig Mecham  Richard Beyer  Richard P Beyer  Theodore K Bammler  Brendan D Stamper 

PROVIDER: E-GEOD-27976 | ArrayExpress | 2012-03-04

SECONDARY ACCESSION(S): GSE27976PRJNA137773

REPOSITORIES: GEO, ArrayExpress

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Publications

Differential expression of extracellular matrix-mediated pathways in single-suture craniosynostosis.

Stamper Brendan D BD   Park Sarah S SS   Beyer Richard P RP   Bammler Theo K TK   Farin Frederico M FM   Mecham Brig B   Cunningham Michael L ML  

PloS one 20111019 10


Craniosynostosis is a disease defined by premature fusion of one or more cranial sutures. The mechanistic pathology of single-suture craniosynostosis is complex and while a number of genetic biomarkers and environmental predispositions have been identified, in many cases the causes remain controversial and inconclusive. In this study, gene expression data from 199 patients with isolated sagittal (n = 100), unilateral coronal (n = 50), and metopic (n = 49) synostosis are compared against both a c  ...[more]

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