{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T09:32:29Z","timestamp":1768555949040,"version":"3.49.0"},"posted":{"date-parts":[[2021,12,14]]},"group-title":"Genetic and Genomic Medicine","reference-count":47,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2021,12,14]]},"abstract":"<jats:title>\n                  A\n                  <jats:sc>bstract<\/jats:sc>\n                <\/jats:title>\n                <jats:p>\n                  Translation of GWAS findings into preventive approaches is challenged by identifying the causal risk variants and understanding their biological mechanisms. We present a novel approach using AE ratios to perform quantitative case-control analysis to identify risk associations, causal regulatory variants, and target genes. Using the breast cancer risk locus 17q22 to validate this approach, we found a significant shift in the AE patterns of\n                  <jats:italic>STXBP4<\/jats:italic>\n                  (rs2628315) and\n                  <jats:italic>COX11<\/jats:italic>\n                  (rs17817901) in the normal breast tissue of cases and healthy controls. Preferential expression of the G-rs2628315 and A-rs17817901 alleles, more often observed in cases, was associated with an increased risk for breast cancer. Analysis of blood samples from cases and controls found a similar association. Furthermore, we identified two putative\n                  <jats:italic>cis<\/jats:italic>\n                  -regulatory variants \u2013 rs17817901 and rs8066588 \u2013 that affect a miRNA and a transcription factor binding site, respectively. Our work reveals the power of integrating AE data in cancer risk studies and presents a novel approach to identifying risk - case-control association analysis using AE ratios.\n                <\/jats:p>","DOI":"10.1101\/2021.12.10.21267625","type":"posted-content","created":{"date-parts":[[2021,12,14]],"date-time":"2021-12-14T21:15:24Z","timestamp":1639516524000},"source":"Crossref","is-referenced-by-count":0,"title":["Germline Allelic Expression of Genes at 17q22 Locus Associates with Risk of Breast Cancer"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3308-8665","authenticated-orcid":false,"given":"Filipa","family":"Esteves","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\/0000-0002-0302-6236","authenticated-orcid":false,"given":"Anthony M.","family":"Ford","sequence":"additional","affiliation":[]},{"given":"C\u00e1tia","family":"Rocha","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8494-732X","authenticated-orcid":false,"given":"Paul D.P.","family":"Pharoah","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3547-1489","authenticated-orcid":false,"given":"Carlos","family":"Caldas","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5697-1082","authenticated-orcid":false,"given":"Suet-Feung","family":"Chin","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0454-9207","authenticated-orcid":false,"given":"Ana-Teresa","family":"Maia","sequence":"additional","affiliation":[]}],"member":"54368","reference":[{"key":"2021121610500952000_2021.12.10.21267625v1.1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0060108"},{"key":"2021121610500952000_2021.12.10.21267625v1.2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002165"},{"key":"2021121610500952000_2021.12.10.21267625v1.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.01.002"},{"key":"2021121610500952000_2021.12.10.21267625v1.4","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1038\/s41467-018-03411-9","article-title":"Capture 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