RT Journal Article
T1 Enrichment of rare genetic variants in astrocyte gene enriched co-expression modules altered in postmortem brain samples of schizophrenia
A1 González Peñas, Javier
A1 Costas Costas, Javier
A1 Ginzo Villamayor, María José
A1 Xu, Bin
K1 RNA-seq
K1 Postmortem brain
K1 Schizophrenia
K1 Rare mutations
K1 Co-expression modules
K1 Astrocytes
AB The transcriptome profiles of the cingulate gyrus region from the postmortem brain tissues of a set of well-characterized patients with schizophrenia (SCZ) and matched controls were investigated using an integrated approach that analyzed both the alterations in transcription expression pattern and rare genetic variants in expressed genes. We demonstrated increased expression of astrocyte-related genes using spatiotemporal co-expression modules that have previously been established for developing human brain, and showed these results are independent of medication dosage. The relationship between genetic variants and expression pattern in the context of neurodevelopment was further investigated, and we identified an enrichment of rare genetic variants in a set of signature genes that were specific to astrocytes and up-regulated in the patients with SCZ. Our result suggested the involvement of astrocyte malfunction in SCZ pathophysiology. In addition, our approach indicated a novel strategy of narrowing down genetic variants that might contribute to the pathophysiology in the patients with SCZ to a subset of genes that are highly expressed in an affected brain region
PB Elsevier
SN 0969-9961
YR 2019
FD 2019
LK http://hdl.handle.net/10347/18625
UL http://hdl.handle.net/10347/18625
LA eng
NO González Peñas, J., Costas, J., Ginzo-Villamayor, M.J., Xu, B. (2019). Enrichment of rare genetic variants in astrocyte gene enriched co-expression modules altered in postmortem brain samples of schizophrenia Neurobiology of Disease. 121. pp. 305 - 314. Elsevier
NO This work was partially supported by a National Alliance for Research in Schizophrenia and Depression (NARSAD) Young Investigator Award (to B.X.)
DS Minerva
RD 28 abr 2026