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Chunk #7 — Results — Cis- and trans-eQTL mapping

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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.
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For type 1 diabetes (T1D) we observed that 59% (30/51) of the known and tested T1D associated SNPs are cis-acting (on in total 53 unique genes) and 17% (9/50) are trans-acting on 22 unique genes (Figure 2). Potentially interesting trans-genes include CCL2, CFB, CLN1, KRT19, OSR1 and RARRES1, all strongly co-expressed with each other. CCL2 and CFB are known immune response genes and have been implicated in T1D before [31]–[33].