GSE160207
RNA Sequencing Analysis of a Whole Blood Transcriptome in Estonian Families with Osteogenesis Imperfecta
Purpose: The main objective of this pilot study was to compare blood transcriptional landscape of OI patients with COL1A1 pathogenic variants and their healthy relatives, in order to find out different gene expression and dysregulated molecular pathways in OI. Methods: We performed RNA sequencing analysis of the whole blood in seven individuals affected with different OI severity and their five unaffected relatives from the three families. The data was analyzed using edgeR package of R Bioconductor. Functional profiling and pathway analysis of the identified differently expressed genes was performed with g:GOSt and MinePath web-based tools. Results: We identified 114 differently expressed genes. The expression of 79 genes was up-regulated, while 35 genes were down-regulated. The functional analysis identified a presence of dysregulated interferon signaling pathways (IFI27, IFITM3, RSAD12, GBP7). Additionally, the expressions of the genes related to extracellular matrix organization, Wnt signaling, vitamin D metabolism and MAPK-ERK 1/2 pathways were also altered. Conclusions: The current pilot study successfully captured the differential expression of inflammation and bone metabolism pathways in OI patients. Overall design: RNAseq Ananlysis of a Whole Blood of 7 affected and 5 unaffected members of three Estonian Osteogenesis Imperfecta kindreds with COL1A1 pathogenic variants