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Chunk #4 — Introduction

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Association of genetic copy number variations at 11 q14.2 with brain regional volume differences in an alcohol use disorder population.
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Given the general lack of knowledge of CNV in alcohol dependent populations, we perform a genome-wide association study on CNVs derived from high density genotyping data from an Illumina human 1 M-duo assay. We specifically focus on CNV regions with frequency greater than 1%. Inspired by previous findings with functional data (Liu et al., 2011); we adopt a model described in Fig. 1; where in addition to direct genetic influence upon behavior, brain volume variations act as a putative intermediate phenotype between copy number variations and behavior. Additionally, we also consider the possible influence of other effects, such as aging and prolonged alcohol use, on brain volume variations.