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Chunk #12 — Materials and Methods — Post-mortem human brain datasets

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GABRA2 Alcohol Dependence Risk Allele is Associated with Reduced Expression of Chromosome 4p12 GABAA Subunit Genes in Human Neural Cultures.
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To compare our results from in vitro neural cultures with adult human brain GABAA gene expression in vivo, we examined data from two publically available post-mortem datasets: Brain Cloud and Braineac. For the Brain Cloud sample the microarray gene expression dataset (http://braincloud.jhmi.edu) (Colantuoni et al., 2011) was merged with SNP genotype data for each sample (dbGap dataset phs000417.v2.c1). We selected all adult Caucasian cases age 18–80 yo (mean=43.1) with an RNA integrity number ≥7.0 (mean RIN=8.25), resulting in a sample of n=60. The SNP dataset did not include rs279858, but rather a nearby marker, rs279856, tightly linked to rs279858 in Caucasians (r2=0.91; http://www.broadinstitute.org/mammals/haploreg/haploreg_v3.php). The Braineac dataset [http://braineac.org/; UK Brain Expression Consortium, (Trabzuni et al., 2011)] consists of microarray gene expression datasets for each of 134 Caucasian subjects together with whole genome SNP data. Donors ranged in age from 16–102 yo (mean=59.0) and RNA samples had an average RIN of 3.85 (range=1–8.5). The Braineac public dataset does not allow the selection of a subset of subjects based on age or RIN. Both rs279858 and rs279856 were reported in this dataset and were in complete LD (r2=1.0).