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Chunk #33 — REGULATORY ELEMENTS IN THE UNTRANSLATED REGIONS — Genetic variants at the 3′UTR — MicroRNAs and miRNA binding sites

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Genetic variants in mRNA untranslated regions.
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Using SNP data, including those from the 1,000 Genomes Project, Richardson and colleagues performed a genome-wide scan of SNPs that disrupt or create new miRNA recognition element site. Specifically, the authors identified 2,723 SNPs disrupting, and 22,295 SNPs creating new miRNA binding sites. Additionally, by analysis of co-expression and eQTL data, they also identified four SNPs with a clear functional role. Among them, rs907091, localised in the IZKF3 gene, a transcription factor important for B-cell activation, created a new binding site for mir-326 with a potential role in autoimmune diseases.68