https://m2.mtmt.hu/ hun 2026-05-26 10:44 JournalArticle 34574277 VALIDATED true 0 false 2026-05-23T13:42:35.533+0000 2025-05-07T05:16:37.672+0000 2024-02-12T13:38:03.346+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin true 10062250 2026-01-23T09:28:22.710+0000 2026-01-23T09:28:22.710+0000 2025-05-07T05:16:37.891+0000 true 10099440 Csernyik Rita /api/admin/10099440 Admin true Admin 10099440 /api/admin/10099440 Csernyik Rita true true 2025-04-25T06:19:56.289+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 Tordai, Dóra Zsuszanna Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes. true true /api/journal/10003252 REVIEWED true false 10003252 false 10003252 true 1661-6596 1422-0067 Journal FOREIGN 25 3 1815 1815 15 2024 Neuropathy is a serious and frequent complication of type 2 diabetes (T2DM). This study was carried out to search for genetic factors associated with the development of diabetic neuropathy by whole exome sequencing. For this study, 24 patients with long-term type 2 diabetes with neuropathy and 24 without underwent detailed neurological assessment and whole exome sequencing. Cardiovascular autonomic function was evaluated by cardiovascular reflex tests. Heart rate variability was measured by the triangle index. Sensory nerve function was estimated by Neurometer and Medoc devices. Neuropathic symptoms were characterized by the neuropathy total symptom score (NTSS). Whole exome sequencing (WES) was performed on a Thermo Ion GeneStudio S5 system determining the coding sequences of approximately 32,000 genes comprising 50 million base pairs. Variants were detected by Ion Reporter software and annotated using ANNOVAR, integrating database information from dbSNP, ClinVar, gnomAD, and OMIM. Integrative genomics viewer (IGV) was used for visualization of the mapped reads. We have identified genetic variants that were significantly associated with increased (22-49-fold) risk of neuropathy (rs2032930 and rs2032931 of recQ-mediated genome instability protein 2 (RMI2) gene), rs604349 of myosin binding protein H like (MYBPHL) gene and with reduced (0.07-0.08-fold) risk (rs917778 of multivesicular body subunit 12B (MVB12B) and rs2234753 of retinoic acid X receptor alpha (RXRA) genes). The rs2032930 showed a significant correlation with current perception thresholds measured at 5 Hz and 250 Hz for n. medianus (p = 0.042 and p = 0.003, respectively) and at 5 Hz for n. peroneus (p = 0.037), as well as the deep breath test (p = 0.022) and the NTSS (p = 0.023). The rs2032931 was associated with current perception thresholds (p = 0.003 and p = 0.037, respectively), deep breath test (p = 0.022), and NTSS (p = 0.023). The rs604349 correlated with values measured at 2000 (p = 0.049), 250 (p = 0.018), and 5 Hz (p = 0.005) for n. medianus, as well as warm perception threshold measured by Medoc device (p = 0.042). The rs2234753 showed correlations with a current perception threshold measured at 2000 Hz for n. medianus (p = 0.020), deep breath test (p = 0.040), and NTSS (p = 0.003). There was a significant relationship between rs91778 and cold perception threshold (p = 0.013). In our study, genetic variants have been identified that may have an impact on the risk of neuropathy developing in type 2 diabetic patients. These results could open up new opportunities for early preventive measures and might provide targets for new drug developments in the future. 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http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=38339094&dopt=Abstract false true Classification 12324 /api/classification/12324 true true Classification 12215 /api/classification/12215 true true Classification 10582 /api/classification/10582 true true Keyword 1044596 /api/keyword/1044596 true 1044596 true Keyword 1084176 /api/keyword/1084176 true 1084176 true Keyword 3293958 /api/keyword/3293958 true true SjrRating 11489344 /api/sjrrating/11489344 18 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 1605 /api/classificationexternal/1605 true 1605 true D1 DIRECT true true /api/publication/34574277 <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="10080509"><a href="/gui2/?type=authors&mode=browse&sel=10080509" target="_blank">Tordai Dóra Zsuszanna ✉ (<span class="authorship-author-name">Tordai Dóra Zsuzsanna</span> <span class="authorAux-mtmt"> Belgyógyászat</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10069757"><a href="/gui2/?type=authors&mode=browse&sel=10069757" target="_blank">Hajdú Noémi (<span class="authorship-author-name">Hajdú Noémi</span> <span class="authorAux-mtmt"> Belgyógyászat</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10090364"><a href="/gui2/?type=authors&mode=browse&sel=10090364" target="_blank">Rácz Ramóna (<span class="authorship-author-name">Rácz Ramóna</span> <span class="authorAux-mtmt"> Belgyógyászat</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024010"><a href="/gui2/?type=authors&mode=browse&sel=10024010" target="_blank">Istenes Ildikó (<span class="authorship-author-name">Istenes Ildikó</span> <span class="authorAux-mtmt"> Belgyógyászat</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10074321"><a href="/gui2/?type=authors&mode=browse&sel=10074321" target="_blank">Békeffy Magdolna (<span class="authorship-author-name">Békeffy Magdolna Zsófia</span> <span class="authorAux-mtmt"> belgyógyászat</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10054195"><a href="/gui2/?type=authors&mode=browse&sel=10054195" target="_blank">Vági Orsolya Erzsébet (<span class="authorship-author-name">Vági Orsolya</span> <span class="authorAux-mtmt"> Belgyógyászat</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10067837"><a href="/gui2/?type=authors&mode=browse&sel=10067837" target="_blank">Kempler Miklós (<span class="authorship-author-name">Kempler Miklós</span> <span class="authorAux-mtmt"> orvos</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>/Belgyógyászati és Hematológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10035653"><a href="/gui2/?type=authors&mode=browse&sel=10035653" target="_blank">Körei Anna Erzsébet (<span class="authorship-author-name">Körei Anna Erzsébet</span> <span class="authorAux-mtmt"> Orvostudomány</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024698"><a href="/gui2/?type=authors&mode=browse&sel=10024698" target="_blank">Tóbiás Bálint (<span class="authorship-author-name">Tóbiás Bálint</span> <span class="authorAux-mtmt"> molekuláris biológia, endokrinológia</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>/Belgyógyászati és Onkológiai Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Belgyógyászati és Onkológiai Klinika">BOK</span>/ELKH-SE Endokrin Molekuláris Patológiai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10048349"><a href="/gui2/?type=authors&mode=browse&sel=10048349" target="_blank">Illés Anett (<span class="authorship-author-name">Illés Anett</span> <span class="authorAux-mtmt"> Molekuláris biológia, Genetika</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10050709"><a href="/gui2/?type=authors&mode=browse&sel=10050709" target="_blank">Pikó Henriett (<span class="authorship-author-name">Pikó Henriett</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>/Belgyógyászati és Onkológiai Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Belgyógyászati és Onkológiai Klinika">BOK</span>/ELKH-SE Endokrin Molekuláris Patológiai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024099"><a href="/gui2/?type=authors&mode=browse&sel=10024099" target="_blank">Kósa János Pál (<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>/Belgyógyászati és Onkológiai Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Belgyógyászati és Onkológiai Klinika">BOK</span>/ELKH-SE Endokrin Molekuláris Patológiai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10053042"><a href="/gui2/?type=authors&mode=browse&sel=10053042" target="_blank">Árvai Kristóf (<span class="authorship-author-name">Árvai Kristóf</span> <span class="authorAux-mtmt"> molekuláris biológia</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Papp Márton </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10012016"><a href="/gui2/?type=authors&mode=browse&sel=10012016" target="_blank">Lakatos Péter András (<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>/Belgyógyászati és Onkológiai Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Belgyógyászati és Onkológiai Klinika">BOK</span>/ELKH-SE Endokrin Molekuláris Patológiai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024012"><a href="/gui2/?type=authors&mode=browse&sel=10024012" target="_blank">Kempler Péter (<span class="authorship-author-name">Kempler Péter</span> <span class="authorAux-mtmt"> Belgyógyászat, diabetológia</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10013989"><a href="/gui2/?type=authors&mode=browse&sel=10013989" target="_blank">Putz Zsuzsanna (<span class="authorship-author-name">Putz Zsuzsanna</span> <span class="authorAux-mtmt"> Belgyógyászat, diabetológia, klinikofarmakológia</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>/Belgyógyászati és Onkológiai Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Belgyógyászati és Onkológiai Klinika">BOK</span>/ELKH-SE Endokrin Molekuláris Patológiai Kutatócsoport</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34574277" target="_blank">Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes.</a></div> <div> <span class="journal-title">INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1661-6596">1661-6596</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1422-0067">1422-0067</a>)</span>: <span class="journal-volume">25</span> <span class="journal-issue">3</span> <span class="page"> Paper 1815. 15 p. </span> <span class="year">(2024)</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/ijms25031815" target="_blank" href="https://doi.org/10.3390/ijms25031815"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001160210900001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001160210900001"> WoS </a> </span> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:black" title="219555" target="_blank" href="http://real.mtak.hu/219555"> REAL </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85184696753" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85184696753"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="38339094" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=38339094&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Organic Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Spectroscopy&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> 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8</span> | Független: 6 | Függő: 2 | Nem jelölt: 0 | WoS jelölt: 7 | Scopus jelölt:&nbsp;7 | WoS/Scopus jelölt:&nbsp;8 | DOI jelölt:&nbsp;7 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;34574277&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 4 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 34574277</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"> (2020-4.1.1.-TKP2020-MOLOKRIV), (SE-ELKH ENDOMOLPAT) </div> <div class="lastModified">Utolsó módosítás: 2025.05.07. 07:16 Csernyik Rita (MTMT központi admin) </div> <div class="lockedBy">Központi kezelésű 2025.04.25. 08:19 Csernyik Rita (MTMT központi admin) </div> </div></div>