Effect of brain DDR1 transcript expression and genetic variants on the diagnosis, neurocognitive performance and psychosocial functioning of patients with schizophrenia and bipolar disorder

Identificador:  TDX:4397

Handle: https://hdl.handle.net/20.500.11797/TDX4397

Autors:  Aranda Castel, Selena

Resum:
subgrupo de pacientes con trastorno bipolar que presentaban síntomas psicóticos, como se había visto previamente en la esquizofrenia. En conclusión, estos resultados sugieren que la expresión de los transcritos de DDR1 expresados en células de la línea oligodendroglial está alterada en el tejido cerebral de pacientes con esquizofrenia y trastorno bipolar, lo que puede explicarse en parte por variantes genéticas; y que las variantes genéticas de DDR1 podrían contribuir al deterioro neurocognitivo y la disfunción psicosocial en pacientes con trastorno bipolar que presentan síntomas psicóticos. We aimed to study the role of gene DDR1 in schizophrenia and bipolar disorder. First, we built coexpression modules for DDR1 and DDR1 transcripts using bulk expression data from brain tissue of healthy controls, patients with schizophrenia and patients with bipolar disorder, and studied the association of coexpression modules and individual DDR1 transcripts with schizophrenia and bipolar disorder. We observed that DDR1 and DDR1 transcripts mainly coexpressed with genes of the oligodendroglial lineage and that the DDR1 transcripts differentially expressed in disease were those that coexpressed with genes involved in the proliferation and differentiation of oligodendrocyte precursor cells. Second, we studied the association of genetic variants within the DDR1 locus with the expression of DDR1 transcripts. We observed that some genetic variants associated with schizophrenia and bipolar disorder were also associated with DDR1 transcripts differentially expressed in disease. Finally, we studied the association of genetic variants within the DDR1 locus with the diagnosis, neurocognitive performance and psychosocial functioning of patients with BD.