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Chunk #20 — Results

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Complex nature of SNP genotype effects on gene expression in primary human leucocytes.
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Celiac disease is an immune mediated disease, dominated by TH1 cytokine response. Given the importance of tissue specific RNA profiles, we felt that peripheral blood was an appropriate medium to study to investigate celiac disease associated genetic variants. Given the known genetic contribution to disease, we enrolled treated celiac disease individuals rather than healthy controls, leading to an enrichment for celiac disease associated genetic variants and underlying causal variants [20,28]. For 110 celiac disease samples that passed quality control, both expression at 19,867 transcripts and genotype data for 257,013 SNPs, were analyzed.