5 research outputs found
The Function Biomedical Informatics Research Network Data Repository
The Function Biomedical Informatics Research Network (FBIRN) developed methods and tools for conducting multi-scanner functional magnetic resonance imaging (fMRI) studies. Method and tool development were based on two major goals: 1) to assess the major sources of variation in fMRI studies conducted across scanners, including instrumentation, acquisition protocols, challenge tasks, and analysis methods, and 2) to provide a distributed network infrastructure and an associated federated database to host and query large, multi-site, fMRI and clinical datasets. In the process of achieving these goals the FBIRN test bed generated several multi-scanner brain imaging data sets to be shared with the wider scientific community via the BIRN Data Repository (BDR). The FBIRN Phase 1 dataset consists of a traveling subject study of 5 healthy subjects, each scanned on 10 different 1.5 to 4 Tesla scanners. The FBIRN Phase 2 and Phase 3 datasets consist of subjects with schizophrenia or schizoaffective disorder along with healthy comparison subjects scanned at multiple sites. In this paper, we provide concise descriptions of FBIRN’s multi-scanner brain imaging data sets and details about the BIRN Data Repository instance of the Human Imaging Database (HID) used to publicly share the data
Gene discovery through imaging genetics : identification of two novel genes associated with schizophrenia
We have discovered two genes, RSRC1 and ARHGAP18, associated with schizophrenia and in
an independent study provided additional support for this association. We have both
discovered and verified the association of two genes, RSRC1 and ARHGAP18, with
schizophrenia. We combined a genome-wide screening strategy with neuroimaging measures
as the quantitative phenotype and identified the single nucleotide polymorphisms (SNPs)
related to these genes as consistently associated with the phenotypic variation. To control for
the risk of false positives, the empirical P-value for association significance was calculated
using permutation testing. The quantitative phenotype was Blood-Oxygen-Level Dependent
(BOLD) Contrast activation in the left dorsal lateral prefrontal cortex measured during a working
memory task. The differential distribution of SNPs associated with these two genes in cases
and controls was then corroborated in a larger, independent sample of patients with
schizophrenia (n = 82) and healthy controls (n = 91), thus suggesting a putative etiological
function for both genes in schizophrenia. Up until now these genes have not been linked to any
neuropsychiatric illness, although both genes have a function in prenatal brain development.
We introduce the use of functional magnetic resonance imaging activation as a quantitative phenotype in conjunction with genome-wide association as a gene discovery tool