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GWAS analysis in schizophrenia and refractoriness to antipsychotic treatment

Grant number: 13/16079-5
Support type:Scholarships abroad - Research Internship - Post-doctor
Effective date (Start): October 10, 2013
Effective date (End): January 09, 2014
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Jair de Jesus Mari
Grantee:Patrícia Natália Silva Moretti
Supervisor abroad: Hakon Hakonarson
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Local de pesquisa : Children's Hospital of Philadelphia (CHOP), United States  
Associated to the scholarship:12/12669-0 - MRNA and miRNA expression analysis in treatment resistance in schizophrenia, BP.PD


Schizophrenia is the most severe and debilitating mental illness among the psychiatric disorders. It's a complex disease characterized by alterations in multiple susceptibility genes, which possibly act together with epigenetic and environmental processes. The current project aims to investigate genetic variants in large scale (SNPs), associated with schizophrenia and with refractoriness to the antipsychotic treatment, to identify potential markers for etiology and disease therapeutic. One hundred and fifty patients being treated with antipsychotics will be evaluated, 40 of them are responders to treatment (non-TRS), and the other 40 are nonresponders (TRS). Peripheral blood samples were collected from all subjects and DNA were extracted from white blood cells. The GWAS evaluation will be performed using the Illumina HumanOmni Express BeadChip microarrays, which interrogate and genotype to 730,525 genetic markers in each sample. The GWAS investigation in these samples will complement gene expression and epigenetic analysis that are currently being performed in these individuals, and will allow the investigation of the interaction between these mechanisms in the disease and in the pharmacological treatment response of schizophrenia. The combination of these findings can add new data to literature, as well as contribute to a better understanding of the pharmacological response in schizophrenia. Moreover, the knowledge learned during training can be applied in future studies. (AU)