Publication:
Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival.

dc.contributor.authorMelaiu, Ombretta
dc.contributor.authorMacauda, Angelica
dc.contributor.authorSainz, Juan
dc.contributor.authorCalvetti, Diego
dc.contributor.authorFacioni, Maria Sole
dc.contributor.authorMaccari, Giuseppe
dc.contributor.authorTer Horst, Rob
dc.contributor.authorNetea, Mihai G
dc.contributor.authorLi, Yang
dc.contributor.authorGrząśko, Norbert
dc.contributor.authorMoreno, Victor
dc.contributor.authorJurczyszyn, Artur
dc.contributor.authorJerez, Andrés
dc.contributor.authorWatek, Marzena
dc.contributor.authorVarkonyi, Judit
dc.contributor.authorGarcia-Sanz, Ramon
dc.contributor.authorKruszewski, Marcin
dc.contributor.authorDudziński, Marek
dc.contributor.authorKadar, Katalin
dc.contributor.authorJacobsen, Svend Erik Hove
dc.contributor.authorMazur, Grzegorz
dc.contributor.authorAndersen, Vibeke
dc.contributor.authorRybicka, Malwina
dc.contributor.authorZawirska, Daria
dc.contributor.authorRaźny, Malgorzata
dc.contributor.authorZaucha, Jan Maciej
dc.contributor.authorOstrovsky, Olga
dc.contributor.authorIskierka-Jazdzewska, Elzbieta
dc.contributor.authorReis, Rui Manuel
dc.contributor.authorStępień, Anna
dc.contributor.authorBeider, Katia
dc.contributor.authorNagler, Arnon
dc.contributor.authorDruzd-Sitek, Agnieszka
dc.contributor.authorMarques, Herlander
dc.contributor.authorMartìnez-Lopez, Joaquin
dc.contributor.authorLesueur, Fabienne
dc.contributor.authorAvet-Loiseau, Hervé
dc.contributor.authorVangsted, Annette Juul
dc.contributor.authorKrawczyk-Kulis, Malgorzata
dc.contributor.authorButrym, Aleksandra
dc.contributor.authorJamroziak, Krzysztof
dc.contributor.authorDumontet, Charles
dc.contributor.authorVogel, Ulla
dc.contributor.authorRymko, Marcin
dc.contributor.authorPelosini, Matteo
dc.contributor.authorSubocz, Edyta
dc.contributor.authorSzombath, Gergely
dc.contributor.authorSarasquete, Maria Eugenia
dc.contributor.authorSilvestri, Roberto
dc.contributor.authorMorani, Federica
dc.contributor.authorLandi, Stefano
dc.contributor.authorCampa, Daniele
dc.contributor.authorCanzian, Federico
dc.contributor.authorGemignani, Federica
dc.date.accessioned2023-02-09T09:46:48Z
dc.date.available2023-02-09T09:46:48Z
dc.date.issued2020-11-20
dc.description.abstractWe evaluated the association between germline genetic variants located within the 3'-untranlsated region (polymorphic 3'UTR, ie, p3UTR) of candidate genes involved in multiple myeloma (MM). We performed a case-control study within the International Multiple Myeloma rESEarch (IMMEnSE) consortium, consisting of 3056 MM patients and 1960 controls recruited from eight countries. We selected p3UTR of six genes known to act in different pathways relevant in MM pathogenesis, namely KRAS (rs12587 and rs7973623), VEGFA (rs10434), SPP1 (rs1126772), IRF4 (rs12211228) and IL10 (rs3024496). We found that IL10-rs3024496 was associated with increased risk of developing MM and with a worse overall survival of MM patients. The variant allele was assayed in a vector expressing eGFP chimerized with the IL10 3'-UTR and it was found functionally active following transfection in human myeloma cells. In this experiment, the A-allele caused a lower expression of the reporter gene and this was also in agreement with the in vivo expression of mRNA measured in whole blood as reported in the GTEx portal. Overall, these data are suggestive of an effect of the IL10-rs3024496 SNP on the regulation of IL10 mRNA expression and it could have clinical implications for better characterization of MM patients in terms of prognosis.
dc.identifier.doi10.1002/ijc.33377
dc.identifier.essn1097-0215
dc.identifier.pmid33152124
dc.identifier.unpaywallURLhttps://findresearcher.sdu.dk/ws/files/175311145/ijc.33377.pdf
dc.identifier.urihttp://hdl.handle.net/10668/16551
dc.issue.number8
dc.journal.titleInternational journal of cancer
dc.journal.titleabbreviationInt J Cancer
dc.language.isoen
dc.organizationHospital Universitario Virgen de las Nieves
dc.organizationCentro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica-GENYO
dc.page.number1887-1894
dc.pubmedtypeJournal Article
dc.pubmedtypeMulticenter Study
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.rights.accessRightsopen access
dc.subject3′-untranslated region
dc.subjectmultiple myeloma
dc.subjectoverall survival
dc.subjectrisk
dc.subjectsingle nucleotide polymorphisms
dc.subjectsusceptibility
dc.subject.mesh3' Untranslated Regions
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshCase-Control Studies
dc.subject.meshFemale
dc.subject.meshGene Expression Regulation, Neoplastic
dc.subject.meshGene Frequency
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGenotype
dc.subject.meshGerm-Line Mutation
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMultiple Myeloma
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshRNA, Messenger
dc.subject.meshRisk Factors
dc.subject.meshSurvival Analysis
dc.titleCommon gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number148
dspace.entity.typePublication
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