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Full-Text Articles in Medicine and Health Sciences

Exome Sequences Of Multiplex, Multigenerational Families Reveal Schizophrenia Risk Loci With Potential Implications For Neurocognitive Performance, Mark Kos, Melanie A. Carless, Juan M. Peralta, Joanne E. Curran, Ellen E. Quillen, Marcio Almeida, August N. Blackburn, Lucy Blondell, David Roalf, Michael F. Pogue-Geile, Harald H. H. Goring, Laura Almasy Dec 2017

Exome Sequences Of Multiplex, Multigenerational Families Reveal Schizophrenia Risk Loci With Potential Implications For Neurocognitive Performance, Mark Kos, Melanie A. Carless, Juan M. Peralta, Joanne E. Curran, Ellen E. Quillen, Marcio Almeida, August N. Blackburn, Lucy Blondell, David Roalf, Michael F. Pogue-Geile, Harald H. H. Goring, Laura Almasy

School of Medicine Publications and Presentations

Schizophrenia is a serious mental illness, involving disruptions in thought and behavior, with a worldwide prevalence of about one percent. Although highly heritable, much of the genetic liability of schizophrenia is yet to be explained. We searched for susceptibility loci in multiplex, multigenerational families affected by schizophrenia, targeting protein-altering variation with in silico predicted functional effects. Exome sequencing was performed on 136 samples from eight European-American families, including 23 individuals diagnosed with schizophrenia or schizoaffective disorder. In total, 11,878 non-synonymous variants from 6,396 genes were tested for their association with schizophrenia spectrum disorders. Pathway enrichment analyses were conducted on gene-based …


Transcriptome Sequencing Study Implicates Immune-Related Genes Differentially Expressed In Schizophrenia: New Data And A Meta-Analysis, Alan R. Sanders, Eugene I. Drigalenko, Jubao Duan, Jessica Freda, Harald H. H. Goring, Pablo V. Gejman Apr 2017

Transcriptome Sequencing Study Implicates Immune-Related Genes Differentially Expressed In Schizophrenia: New Data And A Meta-Analysis, Alan R. Sanders, Eugene I. Drigalenko, Jubao Duan, Jessica Freda, Harald H. H. Goring, Pablo V. Gejman

School of Medicine Publications and Presentations

We undertook an RNA sequencing (RNAseq)-based transcriptomic profiling study on lymphoblastoid cell lines of a European ancestry sample of 529 schizophrenia cases and 660 controls, and found 1058 genes to be differentially expressed by affection status. These differentially expressed genes were enriched for involvement in immunity, especially the 697 genes with higher expression in cases. Comparing the current RNAseq transcriptomic profiling to our previous findings in an array-based study of 268 schizophrenia cases and 446 controls showed a highly significant positive correlation over all genes. Fifteen (18%) of the 84 genes with significant (false discovery rateo0.05) expression differences between cases …


The Impact Of Drug And Gene Interaction On The Antipsychotic Medication For Schizophrenia, Michelle Cho, Adriana Contreras, Ashley Garza, Samantha Olvera, David Castillo, Gabriel A. De Erausquin, Chun Xu Jan 2017

The Impact Of Drug And Gene Interaction On The Antipsychotic Medication For Schizophrenia, Michelle Cho, Adriana Contreras, Ashley Garza, Samantha Olvera, David Castillo, Gabriel A. De Erausquin, Chun Xu

Health & Biomedical Sciences Faculty Publications and Presentations

Objective: Schizophrenia, a neuropsychiatric disorder, is known to be neurodevelopmentally progressive. Due to the extensive interindividual variability found in the responses of patients, management of schizophrenia has proven to be challenging. This interindividual variability to treatment could be justified by the variation of the enzymes in charge of metabolizing medications, especially those associated with cytochrome P450. Since genetic factors influence the phenotypic responses to drugs, researchers are involved in identifying schizophrenic genetic factors, which could impact responses and severe effects for commonly known neuroleptic drugs known as pharmacogenetics. In order to predict drug response at the personal level, genetic variants …