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Neuroimage. 2010 Nov 15;53(3):848-56. doi: 10.1016/j.neuroimage.2009.11.030. Epub 2009 Nov 22.

Imaging genetics of structural brain connectivity and neural integrity markers.

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Unit for Multimodal Imaging Genetics, Clinical Brain Disorders Branch, GCAP, IRP, NIMH, 10 Center Drive, Building 10, Room 3C103, Bethesda, MD 20892, USA.


We review studies that have used diffusion imaging (DI) and magnetic resonance spectroscopy (MRS) to investigate genetic associations. A brief description of the measures obtainable with these methods and of some methodological and interpretability limitations is given. The usefulness of DI and MRS in defining intermediate phenotypes and in demonstrating the effects of common genetic variants known to increase risk for psychiatric manifestations on anatomical and metabolic phenotypes is reviewed. The main focus is on schizophrenia where the greatest amount of data has been collected. Moreover, we present an example coming from a different approach, where the genetic alteration is known (the deletion that causes Williams syndrome) and the DI phenotype can shed new light on the function of genes affected by the mutation. We conclude that, although these are still early days of this type of research and many findings remain controversial, both techniques can significantly contribute to the understanding of genetic effects in the brain and the pathophysiology of psychiatric disorders.

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