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Chunk #27 — DISCUSSION

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Parental origin of sequence variants associated with complex diseases.
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We searched for evidence of epigenetic marks around the novel T2D risk variant rs2334499, as it is located some distance away from the established 11p15.5 imprinted genes. A CTCF binding site in the region was found to be differentially mehtylated and the rs2334499 risk allele was shown to be correlated with decreased methylation. Given the well established role of CTCF in imprinting, this novel site could differentially influence the dosage of imprinted genes on the two parental chromosomes.