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Chunk #51 — Introduction — Current projects of the ENIGMA Consortium

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The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.
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ENIGMA2 is a follow-on study from ENIGMA1, in which the volumes of all major subcortical structures are subjected to genome-wide association analysis (Hibar et al. 2013a). These volumes are known to be moderately to highly heritable, with one recent study reporting highest heritability estimates for the thalamus (0.80) and caudate nucleus (0.88) and lowest for the left nucleus accumbens (0.44; den Braber et al. 2013). The structures are also implicated in a wide range of psychiatric and degenerative brain disorders, making it crucial to identify genetic and environmental factors that may influence them. Preliminary meta-analysis is underway which will be followed by functional characterization of the key hits, with a full report to be submitted soon. A range of functional evaluations is envisaged over the short and long term, ranging from in silico assessments of eQTL data (for instance), all the way to new functional experiments in neuronal cell lines or animal models. This kind of follow up study is crucial, given the difficulties of obtaining robust functional variants from GWAS studies.