https://m2.mtmt.hu/ hun 2026-10-23 13:56 JournalArticle 33807171 VALIDATED true Export Date: 30 March 2025; CODEN: JMDGA 0 false 2026-10-09T16:33:06.826+0000 2024-11-28T06:05:37.984+0000 2023-05-10T07:10:18.146+0000 true 10039043 Milánkovics Róbert /api/admin/10039043 Admin true 10039043 2026-08-11T08:31:16.691+0000 2024-11-28T06:05:38.238+0000 true 10039043 Milánkovics Róbert /api/admin/10039043 Admin true 10039043 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000359 Study Group true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000359 Sokszerzős vagy csoportos szerzőségű szakcikk SubType 104 true 10000359 true 1 /api/category/1 Category true 1 Corradi, Chiara Polymorphic variants involved in methylation regulation : a strategy to discover risk loci for pancreatic ductal adenocarcinoma true true /api/journal/10007110 REVIEWED true false 10007110 false 10007110 true 0022-2593 1468-6244 Journal FOREIGN 60 10 980 986 980 7 2023 Only a small number of risk factors for pancreatic ductal adenocarcinoma (PDAC) has been established. Several studies identified a role of epigenetics and of deregulation of DNA methylation. DNA methylation is variable across a lifetime and in different tissues; nevertheless, its levels can be regulated by genetic variants like methylation quantitative trait loci (mQTLs), which can be used as a surrogate.We scanned the whole genome for mQTLs and performed an association study in 14 705 PDAC cases and 246 921 controls. The methylation data were obtained from whole blood and pancreatic cancer tissue through online databases. We used the Pancreatic Cancer Cohort Consortium and the Pancreatic Cancer Case-Control Consortium genome-wide association study (GWAS) data as discovery phase and the Pancreatic Disease Research consortium, the FinnGen project and the Japan Pancreatic Cancer Research consortium GWAS as replication phase.The C allele of 15q26.1-rs12905855 showed an association with a decreased risk of PDAC (OR=0.90, 95% CI 0.87 to 0.94, p=4.93×10-8 in the overall meta-analysis), reaching genome-level statistical significance. 15q26.1-rs12905855 decreases the methylation of a 'C-phosphate-G' (CpG) site located in the promoter region of the RCCD1 antisense (RCCD1-AS1) gene which, when expressed, decreases the expression of the RCC1 domain-containing (RCCD1) gene (part of a histone demethylase complex). Thus, it is possible that the rs12905855 C-allele has a protective role in PDAC development through an increase of RCCD1 gene expression, made possible by the inactivity of RCCD1-AS1.We identified a novel PDAC risk locus which modulates cancer risk by controlling gene expression through DNA methylation. true 2023 true true true false true false PAY 2026-10-09 false 19 0 19 2 2 19 19 19 18 19 19 2 2 2 17 0 19 2 19 2 0 10 10 Folyóiratcikk Journal Article 24 19 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 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/api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 37130759 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37130759&dopt=Abstract false true Keyword 651 /api/keyword/651 true 651 true Keyword 11029 /api/keyword/11029 true 11029 true Keyword 1003493 /api/keyword/1003493 true 1003493 true Keyword 1005240 /api/keyword/1005240 true 1005240 true Keyword 1023503 /api/keyword/1023503 true 1023503 true SjrRating 11380800 /api/sjrrating/11380800 14 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2716 /api/classificationexternal/2716 true 2716 true Q1 DIRECT true true /api/publication/33807171 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Corradi Chiara </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10060349"><a href="/gui2/?type=authors&mode=browse&sel=10060349" target="_blank">Marta Katalin (<span class="authorship-author-name">Márta Katalin</span> <span class="authorAux-mtmt"> Gasztroenterológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Transzlációs Medicina Központ; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Városmajori Szív- és Érgyógyászati Klinika">VAROSMAJOR_SZÍVÉRGYÓGY</span>/Pankreász Betegségek Részlege</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002629"><a href="/gui2/?type=authors&mode=browse&sel=10002629" target="_blank">Hegyi Péter (<span class="authorship-author-name">Hegyi Péter</span> <span class="authorAux-mtmt"> Gasztroenterológia</span>) </a> </span> <span class="author-affil"><span title="Pécsi Tudományegyetem">PTE</span>/<span title="Általános Orvostudományi Kar">ÁOK</span>/Transzlációs Medicina Intézet; <span title="Pécsi Tudományegyetem">PTE</span>/<span title="Szentágothai János Kutatóközpont">SZKK</span>/Transzlációs medicina kutatócsoport; <span title="Semmelweis Egyetem">SE</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Transzlációs Medicina Központ; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Városmajori Szív- és Érgyógyászati Klinika">VAROSMAJOR_SZÍVÉRGYÓGY</span>/Pankreász Betegségek Részlege</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10084215"><a href="/gui2/?type=authors&mode=browse&sel=10084215" target="_blank">Bunduc Stefania (<span class="authorship-author-name">Bunduc Stefania</span> <span class="authorAux-mtmt"> Gastroenterology</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Transzlációs Medicina Központ; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Városmajori Szív- és Érgyógyászati Klinika">VAROSMAJOR_SZÍVÉRGYÓGY</span>/Pankreász Betegségek Részlege</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10071963"><a href="/gui2/?type=authors&mode=browse&sel=10071963" target="_blank">Hegyi Péter Jeno (<span class="authorship-author-name">Hegyi Péter Jenő</span> <span class="authorAux-mtmt"> Gasztroenterológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Transzlációs Medicina Központ; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Városmajori Szív- és Érgyógyászati Klinika">VAROSMAJOR_SZÍVÉRGYÓGY</span>/Pankreász Betegségek Részlege</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10078474"><a href="/gui2/?type=authors&mode=browse&sel=10078474" target="_blank">Hussein Tamas (<span class="authorship-author-name">Hussein Tamás</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Transzlációs Medicina Központ; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Városmajori Szív- és Érgyógyászati Klinika">VAROSMAJOR_SZÍVÉRGYÓGY</span>/Pankreász Betegségek Részlege</span> ;&nbsp;&nbsp;&nbsp; et al. (62) </div> <div><a target="_blank" href="/api/publication/33807171?labelLang=hun">Összes szerző</a></div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;33807171" target="_blank">Polymorphic variants involved in methylation regulation : a strategy to discover risk loci for pancreatic ductal adenocarcinoma</a></div> <div> <span class="journal-title">JOURNAL OF MEDICAL GENETICS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0022-2593">0022-2593</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1468-6244">1468-6244</a>)</span>: <span class="journal-volume">60</span> <span class="journal-issue">10</span> <span class="page"> pp 980-986 </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_PAY" title=" Fizetős "> <a style="color:blue" title="10.1136/jmg-2022-108910" target="_blank" href="https://doi.org/10.1136/jmg-2022-108910"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001012068200001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001012068200001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85159235636" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85159235636"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="37130759" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37130759&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Genetics&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 19</span> | Független: 2 | Függő: 17 | Nem jelölt: 0 | WoS jelölt: 19 | Scopus jelölt:&nbsp;18 | WoS/Scopus jelölt:&nbsp;19 | DOI jelölt:&nbsp;19 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;33807171&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 10 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 33807171</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Sokszerzős vagy csoportos szerzőségű szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">PubMed XML</span> </div> <div class="lastModified">Utolsó módosítás: 2024.11.28. 07:05 Milánkovics Róbert (PTE ÁOK admin 4) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Export Date: 30 March 2025; CODEN: JMDGA</pre> </div></div>