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Chunk #22 — Results — Complex Genetic Regulation of the Chromosome 4p12 GABAA Cluster

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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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When we examined the within-cluster expression of GABRA2 as a function of rs279858 genotype in the set of 36 iPSC-derived neural cultures, we found that expression did not differ by genotype among cell lines within Cluster 1 or 2 (Figure 5). The lack of a gene-dose effect was not unexpected in Cluster 1, given the very low expression phenotype and small variability between lines (Figure 2). In contrast, we expected that an autosomal Mendelian cis- or trans-acting effect of a rs279858-linked functional variant on RNA levels would be observable in Cluster 2 cultures because GABRA2 expression was readily detectable with significant between-sample variation in Cluster 2 lines.