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Med."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Most breast cancer (BC) risk-associated single-nucleotide polymorphisms (raSNPs) identified in genome-wide association studies (GWAS) are believed to\n                    <jats:italic>cis<\/jats:italic>\n                    -regulate the expression of genes. We hypothesise that\n                    <jats:italic>cis<\/jats:italic>\n                    -regulatory variants contributing to disease risk may be affecting microRNA (miRNA) genes and\/or miRNA binding. To test this, we adapted two miRNA-binding prediction algorithms\u2014TargetScan and miRanda\u2014to perform allele-specific queries, and integrated differential allelic expression (DAE) and expression quantitative trait loci (eQTL) data, to query 150 genome-wide significant (\n                    <jats:inline-formula>\n                      <jats:alternatives>\n                        <jats:tex-math>$$P\\le 5\\times {10}^{-8}$$<\/jats:tex-math>\n                        <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\">\n                          <mml:mrow>\n                            <mml:mi>P<\/mml:mi>\n                            <mml:mo>\u2264<\/mml:mo>\n                            <mml:mn>5<\/mml:mn>\n                            <mml:mo>\u00d7<\/mml:mo>\n                            <mml:msup>\n                              <mml:mrow>\n                                <mml:mn>10<\/mml:mn>\n                              <\/mml:mrow>\n                              <mml:mrow>\n                                <mml:mo>\u2212<\/mml:mo>\n                                <mml:mn>8<\/mml:mn>\n                              <\/mml:mrow>\n                            <\/mml:msup>\n                          <\/mml:mrow>\n                        <\/mml:math>\n                      <\/jats:alternatives>\n                    <\/jats:inline-formula>\n                    ) raSNPs, plus proxies. We found that no raSNP mapped to a miRNA gene, suggesting that altered miRNA targeting is an unlikely mechanism involved in BC risk. Also, 11.5% (6 out of 52) raSNPs located in 3\u2032-untranslated regions of putative miRNA target genes were predicted to alter miRNA::mRNA (messenger RNA) pair binding stability in five candidate target genes. Of these, we propose\n                    <jats:italic>RNF115<\/jats:italic>\n                    , at locus 1q21.1, as a strong novel target gene associated with BC risk, and reinforce the role of miRNA-mediated\n                    <jats:italic>cis<\/jats:italic>\n                    -regulation at locus 19p13.11. We believe that integrating allele-specific querying in miRNA-binding prediction, and data supporting\n                    <jats:italic>cis<\/jats:italic>\n                    -regulation of expression, improves the identification of candidate target genes in BC risk, as well as in other common cancers and complex diseases.\n                  <\/jats:p>","DOI":"10.1038\/s41525-019-0112-9","type":"journal-article","created":{"date-parts":[[2020,2,13]],"date-time":"2020-02-13T06:03:11Z","timestamp":1581573791000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk"],"prefix":"10.1038","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0021-9702","authenticated-orcid":false,"given":"Ana","family":"Jacinta-Fernandes","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0702-6700","authenticated-orcid":false,"given":"Joana M.","family":"Xavier","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5226-3441","authenticated-orcid":false,"given":"Ramiro","family":"Magno","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2789-8303","authenticated-orcid":false,"given":"Joel G.","family":"Lage","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0454-9207","authenticated-orcid":false,"given":"Ana-Teresa","family":"Maia","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2020,2,13]]},"reference":[{"key":"112_CR1","doi-asserted-by":"crossref","first-page":"D896","DOI":"10.1093\/nar\/gkw1133","volume":"45","author":"J MacArthur","year":"2017","unstructured":"MacArthur, J. et al. 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