{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T15:20:18Z","timestamp":1790436018101,"version":"4.1.0"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"15","license":[{"start":{"date-parts":[[2022,2,14]],"date-time":"2022-02-14T00:00:00Z","timestamp":1644796800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Bruno and Helene J\u00f6ster Foundation"},{"name":"Hannover Biomedical Research School"},{"name":"Shanghai New Medical Union Hospital"},{"DOI":"10.13039\/501100012217","name":"Xuzhou Medical University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012217","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Cervical cancer is among the leading causes of cancer-related death in females worldwide. Infection by human papillomavirus (HPV) is an established risk factor for cancer development. However, genetic factors contributing to disease risk remain largely unknown. We report on a genome-wide association study (GWAS) on 375 German cervical cancer patients and 866 healthy controls, followed by a replication study comprising 658 patients with invasive cervical cancer, 1361 with cervical dysplasia and 841 healthy controls. Functional validation was performed for the top GWAS variant on chromosome 14q12 (rs225902, close to PRKD1). After bioinformatic annotation and in silico predictions, we performed transcript analysis in a cervical tissue series of 317 samples and demonstrate rs225902 as an expression quantitative trait locus (eQTL) for FOXG1 and two tightly co-regulated long non-coding RNAs at this genomic region, CTD-2251F13 (lnc-PRKD1-1) and CTD-2503I6 (lnc-FOXG1-6). We also show allele-specific effects of the 14q12 variants via luciferase assays. We propose a combined effect of genotype, HPV status and gene expression at this locus on cervical cancer progression. Taken together, this work uncovers a potential candidate locus with regulatory functions and contributes to the understanding of genetic susceptibility to cervical cancer.<\/jats:p>","DOI":"10.1093\/hmg\/ddac031","type":"journal-article","created":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T12:08:18Z","timestamp":1644408498000},"page":"2483-2497","source":"Crossref","is-referenced-by-count":5,"title":["Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8139-7799","authenticated-orcid":false,"given":"Dhanya","family":"Ramachandran","sequence":"first","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, , Hannover 30625, Germany"},{"name":"Hannover Medical School , Comprehensive Cancer Center, , Hannover 30625, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe","family":"Dennis","sequence":"additional","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology , Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Fachal","sequence":"additional","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology , Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Sch\u00fcrmann","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, , Hannover 30625, Germany"},{"name":"Hannover Medical School , Comprehensive Cancer Center, , Hannover 30625, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine","family":"Bousset","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, , Hannover 30625, Germany"},{"name":"Hannover Medical School , Comprehensive Cancer Center, , Hannover 30625, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"H\u00fclse","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, , Hannover 30625, Germany"},{"name":"Hannover Medical School , Comprehensive Cancer Center, , Hannover 30625, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, , Hannover 30625, Germany"},{"name":"Hannover Medical School , Comprehensive Cancer Center, , Hannover 30625, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, , Hannover 30625, Germany"},{"name":"Hannover Medical School , Comprehensive Cancer Center, , Hannover 30625, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Jentschke","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, , Hannover 30625, Germany"},{"name":"Hannover Medical School , Comprehensive Cancer Center, , Hannover 30625, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerd","family":"B\u00f6hmer","sequence":"additional","affiliation":[{"name":"IZD Hannover , Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Georg","family":"Strau\u00df","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , University Clinics, , Halle-Wittenberg, Germany"},{"name":"Martin-Luther University , University Clinics, , Halle-Wittenberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Hirchenhain","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Clinics Carl Gustav Carus, , Dresden, Germany"},{"name":"University of Dresden , Clinics Carl Gustav Carus, , Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Schmidmayr","sequence":"additional","affiliation":[{"name":"Department of Gynaecology, Technische Universit\u00e4t M\u00fcnchen , Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Martin-Luther Hospital, Charite University , Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Runnebaum","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Jena University Hospital, , Jena 07747, Germany"},{"name":"Friedrich-Schiller-University Jena , Jena University Hospital, , Jena 07747, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hein","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"},{"name":"Friedrich Alexander University of Erlangen\u2013Nuremberg (FAU) , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederik","family":"St\u00fcbs","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"},{"name":"Friedrich Alexander University of Erlangen\u2013Nuremberg (FAU) , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Koch","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"},{"name":"Friedrich Alexander University of Erlangen\u2013Nuremberg (FAU) , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Ruebner","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"},{"name":"Friedrich Alexander University of Erlangen\u2013Nuremberg (FAU) , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias W","family":"Beckmann","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"},{"name":"Friedrich Alexander University of Erlangen\u2013Nuremberg (FAU) , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter A","family":"Fasching","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"},{"name":"Friedrich Alexander University of Erlangen\u2013Nuremberg (FAU) , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Luyten","sequence":"additional","affiliation":[{"name":"Dysplasia Unit , Department of Gynaecology and Obstetrics, , Kronshagen, Germany"},{"name":"Mare Klinikum , Department of Gynaecology and Obstetrics, , Kronshagen, Germany"},{"name":"Department of Gynaecology, Wolfsburg Hospital , Wolfsburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"D\u00fcrst","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"},{"name":"Friedrich Alexander University of Erlangen\u2013Nuremberg (FAU) , Comprehensive Cancer Center Erlangen-EMN, Erlangen University Hospital, , Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hillemanns","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, , Hannover 30625, Germany"},{"name":"Hannover Medical School , Comprehensive Cancer Center, , Hannover 30625, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas F","family":"Easton","sequence":"additional","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology , Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK"},{"name":"Centre for Cancer Genetic Epidemiology , Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9458-0282","authenticated-orcid":false,"given":"Thilo","family":"D\u00f6rk","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , Comprehensive Cancer Center, 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