Imaging-Genetics: Developing and Testing of Neuroimaging-Based Endophenotypes

Peter Kochunov
University of Maryland


Abstract: Endophenotypes is concept that originated in the research on genetic causes of mental disorders and is now widespread. It refers to the use of quantitative traits, phenotypes, rather than binary clinical diagnosis variables for genetic analyses that attempt to identify causative genetic loci. It has proved to a significantly more powerful approach compared to traditional contrasts based on patient-control group assignment. Imaging genetic makes the endophenotype concept even more powerful. Instead of relating clinical or behavioral measures to variants in the genome, it offers a direct approach to discover genetic variants that lead to disorder-related alterations in brain structure and function. Endophenotype development is accomplished in two steps. First, it is necessary to demonstrate that a phenotype is under significant genetic control by performing a heritability study. Second, it is necessary to demonstrate that the endophenotype shares genetic variance (pleiotropy) with the disorder. This talk will demonstrate how all steps of endophenotype developing can be accomplished using SOLAR-Eclipse imaging genetics software on the example of diffusion tensor imaging and two disorders – hypertension and schizophrenia.

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