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Chunk #34 — 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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The correlation between genetic variants at the 3′UTR and miRNA function has been extensively studied and are often associated with diseases. In 2016, Ghanbari and colleagues performed an analysis to identify genetic variants in miRNA genes and in miRNA-binding sites associated with Alzheimer Disease (AD). They found 237 variants in 206 miRNA genes and 42,855 variants in miRNA-binding sites present in AD-GWAS.69 Among the 42,855 variants located in the miRNA-binding sites, they found 10 of them located in the 3′UTR of nine genes, including rs6857, which is predicted to create a target site for miRNA-320e in the 3′UTR of the poliovirus receptor-related 2 (PVRL2) gene.69