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Chunk #18 — RESULTS — Trans-eQTL for the disease-associated 12q13.2 locus with cell cycle regulators

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Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.
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pathogenic memory B-cells31 and is a known susceptibility gene for SLE32. Intriguingly, a further trans-association was found for a transcript mapping 5′ to the actual gene encoding p21/CIP1 (CDKN1A) (pB-cell=2×10−52, pmonocyte=1.8×10−4). This region is denoted as the pseudogene LAP3P2 but we find using RNA-seq it is a region of high transcriptional activity in primary B-cells (Figure 4c). rs11171739 has also been associated with type 2 diabetes (T2D)33 and we note on further analysis of this region a trans eQTL between this SNP and PRIC285 (pB-cell=3.0×10−10) a transcriptional coactivator involved in PPARγ signaling. Given the role of PPARγ agonists in T2D management this association may be of notable biological relevance34.