{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T22:18:35Z","timestamp":1792793915976,"version":"4.5.0"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T00:00:00Z","timestamp":1678924800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002301","name":"Estonian Research Council","doi-asserted-by":"publisher","award":["PSG776"],"award-info":[{"award-number":["PSG776"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Estonian Research Council","doi-asserted-by":"publisher","award":["PRG1911"],"award-info":[{"award-number":["PRG1911"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Estonian Research Council","doi-asserted-by":"publisher","award":["PRG1291"],"award-info":[{"award-number":["PRG1291"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Estonian Research Council","doi-asserted-by":"publisher","award":["PRG687"],"award-info":[{"award-number":["PRG687"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Genome-wide association studies (GWAS) have successfully identified associations for cervical cancer, but the underlying mechanisms of cervical biology and pathology remain uncharacterised. Our GWAS meta-analyses fill this gap, as we characterise the genetic architecture of cervical phenotypes, including cervical ectropion, cervicitis, cervical dysplasia, as well as up to 9229 cases and 490\u2009304 controls for cervical cancer from diverse ancestries. Leveraging the latest computational methods and gene expression data, we refine the association signals for cervical cancer and propose potential causal variants and genes at each locus. We prioritise PAX8\/PAX8-AS1, LINC00339, CDC42, CLPTM1L, HLA-DRB1 and GSDMB as the most likely candidate genes for cervical cancer signals, providing insights into cervical cancer pathogenesis and supporting the involvement of reproductive tract development, immune response and cellular proliferation\/apoptosis. We construct a genetic risk score (GRS) that is associated with cervical cancer [hazard ratios (HR)\u00a0=\u20093.1 (1.7\u20135.6) for the top 15% vs lowest 15% of individuals], and with other HPV- and immune-system-related diagnoses in a phenome-wide association study analysis. Our results propose valuable leads for further functional studies and present a GRS for cervical cancer that allows additional risk stratification and could potentially be used to personalise the conventional screening strategies for groups more susceptible to cervical cancer.<\/jats:p>","DOI":"10.1093\/hmg\/ddad043","type":"journal-article","created":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T15:21:29Z","timestamp":1678980089000},"page":"2103-2116","source":"Crossref","is-referenced-by-count":33,"title":["GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer"],"prefix":"10.1093","volume":"32","author":[{"given":"Mariann","family":"Koel","sequence":"first","affiliation":[{"name":"University of Tartu Estonian Genome Centre, Institute of Genomics, , Tartu 51010 , Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urmo","family":"V\u00f5sa","sequence":"additional","affiliation":[{"name":"University of Tartu Estonian Genome Centre, Institute of Genomics, , Tartu 51010 , Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarja","family":"J\u00f5eloo","sequence":"additional","affiliation":[{"name":"University of Tartu Estonian Genome Centre, Institute of Genomics, , Tartu 51010 , Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristi","family":"L\u00e4ll","sequence":"additional","affiliation":[{"name":"University of Tartu Estonian Genome Centre, Institute of Genomics, , Tartu 51010 , Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nat\u00e0lia P","family":"Gualdo","sequence":"additional","affiliation":[{"name":"University of Tartu Estonian Genome Centre, Institute of Genomics, , Tartu 51010 , Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannele","family":"Laivuori","sequence":"additional","affiliation":[{"name":"University of Helsinki Institute for Molecular Medicine Finland, FIMM, HiLIFE, , Helsinki 00014 , Finland"},{"name":"Tampere University Hospital and Tampere University Faculty of Medicine and Health Technology, Department of Obstetrics and Gynecology, , Tampere 33520 , Finland"},{"name":"University of Helsinki and Helsinki University Hospital Medical and Clinical Genetics, , Helsinki 00014 , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Lemmel\u00e4","sequence":"additional","affiliation":[{"name":"University of Helsinki Institute for Molecular Medicine Finland, FIMM, HiLIFE, , Helsinki 00014 , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Estonian Biobank Research Team; FinnGen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Daly","sequence":"additional","affiliation":[{"name":"University of Helsinki Institute for Molecular Medicine Finland, FIMM, HiLIFE, , Helsinki 00014 , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priit","family":"Palta","sequence":"additional","affiliation":[{"name":"University of Tartu Estonian Genome Centre, Institute of Genomics, , Tartu 51010 , Estonia"},{"name":"University of Helsinki Institute for Molecular Medicine Finland, FIMM, HiLIFE, , Helsinki 00014 , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reedik","family":"M\u00e4gi","sequence":"additional","affiliation":[{"name":"University of Tartu Estonian Genome Centre, Institute of Genomics, , Tartu 51010 , Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Triin","family":"Laisk","sequence":"additional","affiliation":[{"name":"University of Tartu Estonian Genome Centre, Institute of Genomics, , Tartu 51010 , Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,3,16]]},"reference":[{"key":"2023062014142206300_ref1","doi-asserted-by":"crossref","first-page":"e191","DOI":"10.1016\/S2214-109X(19)30482-6","article-title":"Estimates of incidence and mortality of cervical cancer in 2018: a worldwide analysis","volume":"8","author":"Arbyn","year":"2020","journal-title":"Lancet Glob. 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