https://m2.mtmt.hu/ hun 2026-10-24 09:54 JournalArticle 3267275 VALIDATED true 0 2018-10-02T08:54:25.000+0000 false 3267275 2026-10-18T08:44:17.855+0000 2021-03-11T17:25:15.586+0000 2017-09-18T14:23:26.000+0000 true 10012016 Lakatos Péter /api/author/10012016 Author true 10012016 2026-01-22T08:08:49.447+0000 2026-01-22T08:08:49.447+0000 2021-03-11T17:25:15.600+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 Admin 10003134 /api/admin/10003134 Wolf György true 10003134 true Admin 10067876 /api/admin/10067876 Ladányi Gusztáv true true 2024-10-17T16:14:31.681+0000 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Yang, G SIRT1/HERC4 Locus Associated with Bisphosphonate-Induced Osteonecrosis of the Jaw: An Exome-Wide Association Analysis true true /api/journal/2311 REVIEWED true false 2311 false 2311 true 0884-0431 1523-4681 Journal FOREIGN 33 1 91 98 91 8 2018 Osteonecrosis of jaw (ONJ) is a rare but serious adverse drug side effect, mainly associated with the use of intravenous (IV) bisphosphonates (BPs). The purpose of this study was to identify genetic variants associated with ONJ in patients of European ancestry treated with IV BPs using a whole-exome sequencing (WES). The WES phase 1 included 44 multiple myeloma patients (22 ONJ cases and 22 controls) and WES phase 2 included 17 ONJ patients with solid tumors. Multivariable logistic regression analysis was performed to estimate the odds ratios (ORs) and 95% confidence intervals (CI) adjusting for age, gender and principal components for ancestry. Meta-analysis of WES phase 1 and 2 was performed to estimate the combined ORs. In silico analyses were then performed to identify expression quantitative loci (eQTL) single nucleotide polymorphisms (SNPs) that are in high linkage disequilibrium (LD) with the top SNPs. The associations of the potentially functional SNPs were replicated and validated in an independent case-control study of 48 patients of European ancestry treated with IV BPs (19 ONJ cases and 29 controls). The top SNPs in the exome-wide association meta-analysis were two SNPs on Chromosome 10: SIRT1 SNP rs7896005 and HERC4 SNP rs3758392 with identical OR of 0.07 (0.01-0.46) (p = 3.83*10-5 ). In the in silico functional analyses, two promoter region SNPs (rs7894483 and rs3758391) were identified to be in high LD with the index SNPs and are eQTLs for SIRT1 gene in whole blood in the GTEx database. The ORs were 0.30 (0.10-0.88), 0.26 (0.12-0.55), and 0.26 (0.12-0.55) for the WES top SNP rs7896005 and two promoter SNPs rs7894483 and rs3758391, respectively, in the replication sample. In summary, we identified the SIRT1/HERC4 locus on Chromosome 10 to be associated with IV BPs related ONJ and two promoter SNPs that might be the potential genetic markers for this association. This article is protected by copyright. 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http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85040715031 false 1781790 true PublicationIdentifier 1227799 /api/publicationidentifier/1227799 PlainSource 17 /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 false IDENTICAL 28856724 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=28856724&dopt=Abstract false 1637325 true Classification 12215 /api/classification/12215 true true SjrRating 10796945 /api/sjrrating/10796945 13 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2712 /api/classificationexternal/2712 true 2712 true D1 DIRECT true true /api/publication/3267275 <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" >Yang G </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Hamadeh I<sup>*</sup> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Katz J </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Riva A </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10012016"><a href="/gui2/?type=authors&mode=browse&sel=10012016" target="_blank">Lakatos P (<span class="authorship-author-name">Lakatos Péter</span> <span class="authorAux-mtmt"> Osteológia, endokrinológia, molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/I. Sz. Belgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Balla B </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024099"><a href="/gui2/?type=authors&mode=browse&sel=10024099" target="_blank">Kosa J (<span class="authorship-author-name">Kósa János</span> <span class="authorAux-mtmt"> molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/I. Sz. Belgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10045854"><a href="/gui2/?type=authors&mode=browse&sel=10045854" target="_blank">Vaszilko M (<span class="authorship-author-name">Vaszilkó Mihály Tamás</span> <span class="authorAux-mtmt"> Arc-Állcsont és Szájsebészet</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Fogorvostudományi Kar">FOK</span>/Arc- Állcsont- Szájsebészeti és Fogászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Pelliccioni GA </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Davis N </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Langaee TY </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Moreb JS </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Gong Y ✉ </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;3267275" target="_blank">SIRT1/HERC4 Locus Associated with Bisphosphonate-Induced Osteonecrosis of the Jaw: An Exome-Wide Association Analysis</a></div> <div> <span class="journal-title">JOURNAL OF BONE AND MINERAL RESEARCH</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0884-0431">0884-0431</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1523-4681">1523-4681</a>)</span>: <span class="journal-volume">33</span> <span class="journal-issue">1</span> <span class="page"> pp 91-98 </span> <span class="year">(2018)</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_none" title="none"> <a style="color:blue" title="10.1002/jbmr.3285" target="_blank" href="https://doi.org/10.1002/jbmr.3285"> DOI </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="6266" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/6266"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000422723400013" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000422723400013"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85040715031" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85040715031"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="28856724" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=28856724&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Endocrinology, Diabetes and Metabolism&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Orthopedics and Sports Medicine&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</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: 41</span> | Független: 36 | Függő: 5 | Nem jelölt: 0 | WoS jelölt: 33 | Scopus jelölt:&nbsp;35 | WoS/Scopus jelölt:&nbsp;36 | DOI jelölt:&nbsp;38 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;3267275&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 3267275</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> <span class="oldId">Régi azonosító: 3267275</span> | Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">MEDLINE</span> </div> <div class="lastModified">Utolsó módosítás: 2021.03.11. 18:25 Csajbók Edit (SE_KK_Admin5_CSE, admin) </div> <div class="lockedBy">Központi kezelésű 2024.10.17. 18:14 Wolf György (MTMT Központi admin) Ladányi Gusztáv (MTMT API user, admin) </div> </div></div>