Abstract
The quest to discover genetic variants that affect the human brain will be accelerated by screening brain images from large populations. Even so, the wealth of information in medical images is often reduced to a single numeric summary, such as a regional volume or an average signal, which is then analyzed in a genome wide association study (GWAS). The high cost and penalty for multiple comparisons often constrains us from searching over the entire image space. Here, we developed a method to compute and boost power to detect genetic associations in brain images. We computed voxel-wise heritability estimates for fractional anisotropy in over 1,100 DTI scans, and used the results to threshold FA images from new studies. We describe voxel selection criteria to optimally boost power, as a function of the sample size and allele frequency cut-off. We illustrate our methods by analyzing publicly-available data from the ADNI2 project.
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- 1.
At each location on the genome, a person has a specific nucleotide or base-pair combination; SNPs are common variants in the genetic code, carried by at least 1 % of the population.
- 2.
A phenotype is a biological measure that is subjected to genetic analysis, such as the size of a brain region, or a diffusion imaging measure in a specific region.
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Jahanshad, N. et al. (2014). Power Estimates for Voxel-Based Genetic Association Studies Using Diffusion Imaging. In: Schultz, T., Nedjati-Gilani, G., Venkataraman, A., O'Donnell, L., Panagiotaki, E. (eds) Computational Diffusion MRI and Brain Connectivity. Mathematics and Visualization. Springer, Cham. https://doi.org/10.1007/978-3-319-02475-2_21
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DOI: https://doi.org/10.1007/978-3-319-02475-2_21
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