https://m2.mtmt.hu/ hun 2026-04-16 19:38 JournalArticle 33132846 VALIDATED true Export Date: 06 August 2025; Cited By: 5; Correspondence Address: É. Kereszturi; Department of Molecular Biology, Semmelweis University, Budapest, H-1085, Hungary; email: kereszturi.eva@med.semmelweis-univ.hu 0 false 2026-02-19T16:03:21.150+0000 2026-02-03T08:41:19.369+0000 2022-10-10T06:43:39.698+0000 true 10000786 Csala Miklós /api/author/10000786 Author true 10000786 2026-02-19T15:58:33.771+0000 2024-12-06T18:02:29.240+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 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 Zámbó, Veronika A Single Nucleotide Polymorphism (rs3811792) Affecting Human SCD5 Promoter Activity Is Associated with Diabetes Mellitus true true /api/journal/10018335 REVIEWED true false 10018335 false 10018335 true 2073-4425 2073-4425 Journal FOREIGN 13 10 1784 1784 17 2022 The combined prevalence of type 1 (T1DM) and type 2 (T2DM) diabetes mellitus is 10.5% worldwide and this is constantly increasing. The pathophysiology of the diseases include disturbances of the lipid metabolism, in which acyl-CoA desaturases play a central role as they synthesize unsaturated fatty acids, thereby providing protection against lipotoxicity. The stearoyl-CoA desaturase-5 (SCD5) isoform has received little scientific attention. We aimed to investigate the SCD5 promoter and its polymorphisms in vitro, in silico and in a case-control study. The SCD5 promoter region was determined by a luciferase reporter system in HepG2, HEK293T and SK-N-FI cells and it was proved to be cell type-specific, but it was insensitive to different fatty acids. The effect of the SCD5 promoter polymorphisms rs6841081 and rs3811792 was tested in the transfected cells. The T allele of rs3811792 single nucleotide polymorphism (SNP) significantly reduced the activity of the SCD5 promoter in vitro and modified several transcription factor binding sites in silico. A statistically significant association of rs3811792 SNP with T1DM and T2DM was also found, thus supporting the medical relevance of this variation and the complexity of the molecular mechanisms in the development of metabolic disorders. In conclusion, the minor allele of rs3811792 polymorphism might contribute to the development of diabetes by influencing the SCD5 promoter activity. 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4 0.125 false false false Author 10072762 /api/author/10072762 Tibori Kinga true true Tibori Kinga true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103708955 /api/authorship/103708955 5 0.125 false false false Author 10024616 /api/author/10024616 Sipeki Szabolcs true 10024616 true Sipeki Szabolcs true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103708956 /api/authorship/103708956 6 0.125 false false false Author 10090148 /api/author/10090148 Molnár Krisztina true true Molnár Krisztina true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103708957 /api/authorship/103708957 7 0.125 false false false Author 10000786 /api/author/10000786 Csala Miklós true 10000786 true Csala Miklós true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103708958 /api/authorship/103708958 8 0.125 false true true Author 10020321 /api/author/10020321 Kereszturi Éva true 10020321 true Kereszturi Éva true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 21776226 /api/publicationidentifier/21776226 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3390/genes13101784 https://doi.org/10.3390/genes13101784 false true PublicationIdentifier 22015452 /api/publicationidentifier/22015452 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000873161200001 https://www.webofscience.com/wos/woscc/full-record/000873161200001 false true PublicationIdentifier 21992447 /api/publicationidentifier/21992447 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 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10.1016/j.cbpb.2008.05.001 false true Reference 34182859 /api/reference/34182859 47 10.1152/ajpendo.00544.2010 false true Reference 34182860 /api/reference/34182860 48 10.3390/ijms17111868 false true Reference 34182861 /api/reference/34182861 49 10.1016/j.fct.2018.12.022 false true Reference 34182862 /api/reference/34182862 50 10.3390/ijms21072626 false true Reference 34182863 /api/reference/34182863 51 10.1002/1873-3468.13622 false true Reference 34182864 /api/reference/34182864 52 10.4254/wjh.v5.i10.550 false true /api/publication/33132846 <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" mtid="10025630"><a href="/gui2/?type=authors&mode=browse&sel=10025630" target="_blank">Zámbó Veronika (<span class="authorship-author-name">Zámbó Veronika</span> <span class="authorAux-mtmt"> Molekuláris biológia, biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10085434"><a href="/gui2/?type=authors&mode=browse&sel=10085434" target="_blank">Orosz Gabriella (<span class="authorship-author-name">Orosz Gabriella</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="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szabó Luca </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10072762"><a href="/gui2/?type=authors&mode=browse&sel=10072762" target="_blank">Tibori Kinga (<span class="authorship-author-name">Tibori Kinga</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024616"><a href="/gui2/?type=authors&mode=browse&sel=10024616" target="_blank">Sipeki Szabolcs (<span class="authorship-author-name">Sipeki Szabolcs</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10090148"><a href="/gui2/?type=authors&mode=browse&sel=10090148" target="_blank">Molnár Krisztina (<span class="authorship-author-name">Molnár Krisztina</span> <span class="authorAux-mtmt"> molekuláris genetika, biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000786"><a href="/gui2/?type=authors&mode=browse&sel=10000786" target="_blank">Csala Miklós (<span class="authorship-author-name">Csala Miklós</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10020321"><a href="/gui2/?type=authors&mode=browse&sel=10020321" target="_blank">Kereszturi Éva ✉ (<span class="authorship-author-name">Kereszturi Éva</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;33132846" target="_blank">A Single Nucleotide Polymorphism (rs3811792) Affecting Human SCD5 Promoter Activity Is Associated with Diabetes Mellitus</a></div> <div> <span class="journal-title">GENES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/2073-4425">2073-4425</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/2073-4425">2073-4425</a>)</span>: <span class="journal-volume">13</span> <span class="journal-issue">10</span> <span class="page"> Paper 1784. 17 p. </span> <span class="year">(2022)</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_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/genes13101784" target="_blank" href="https://doi.org/10.3390/genes13101784"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000873161200001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000873161200001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85140726674" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85140726674"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="36292669" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=36292669&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="https://www.mdpi.com/2073-4425/13/10/1784" target="_blank" href="https://www.mdpi.com/2073-4425/13/10/1784"> Egyéb URL </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Genetics&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</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: 9</span> | Független: 6 | Függő: 3 | Nem jelölt: 0 | WoS jelölt: 7 | Scopus jelölt:&nbsp;7 | WoS/Scopus jelölt:&nbsp;7 | DOI jelölt:&nbsp;8 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;33132846&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 6 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 33132846</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (FK138115) Támogató: NKFIH, (K125201) Támogató: NKFIH, (INKUBÁTOR program of the Department of Molecular Biology), (TKP2021-EGA-24) </div> <div class="lastModified">Utolsó módosítás: 2026.02.03. 09:41 Kondor Zóra (SE_KK_Admin5_KZ, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Export Date: 06 August 2025; Cited By: 5; Correspondence Address: É. Kereszturi; Department of Molecular Biology, Semmelweis University, Budapest, H-1085, Hungary; email: kereszturi.eva@med.semmelweis-univ.hu</pre> </div></div>