RT Journal Article
T1 Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival.
A1 Melaiu, Ombretta
A1 Macauda, Angelica
A1 Sainz, Juan
A1 Calvetti, Diego
A1 Facioni, Maria Sole
A1 Maccari, Giuseppe
A1 Ter Horst, Rob
A1 Netea, Mihai G
A1 Li, Yang
A1 Grząśko, Norbert
A1 Moreno, Victor
A1 Jurczyszyn, Artur
A1 Jerez, Andrés
A1 Watek, Marzena
A1 Varkonyi, Judit
A1 Garcia-Sanz, Ramon
A1 Kruszewski, Marcin
A1 Dudziński, Marek
A1 Kadar, Katalin
A1 Jacobsen, Svend Erik Hove
A1 Mazur, Grzegorz
A1 Andersen, Vibeke
A1 Rybicka, Malwina
A1 Zawirska, Daria
A1 Raźny, Malgorzata
A1 Zaucha, Jan Maciej
A1 Ostrovsky, Olga
A1 Iskierka-Jazdzewska, Elzbieta
A1 Reis, Rui Manuel
A1 Stępień, Anna
A1 Beider, Katia
A1 Nagler, Arnon
A1 Druzd-Sitek, Agnieszka
A1 Marques, Herlander
A1 Martìnez-Lopez, Joaquin
A1 Lesueur, Fabienne
A1 Avet-Loiseau, Hervé
A1 Vangsted, Annette Juul
A1 Krawczyk-Kulis, Malgorzata
A1 Butrym, Aleksandra
A1 Jamroziak, Krzysztof
A1 Dumontet, Charles
A1 Vogel, Ulla
A1 Rymko, Marcin
A1 Pelosini, Matteo
A1 Subocz, Edyta
A1 Szombath, Gergely
A1 Sarasquete, Maria Eugenia
A1 Silvestri, Roberto
A1 Morani, Federica
A1 Landi, Stefano
A1 Campa, Daniele
A1 Canzian, Federico
A1 Gemignani, Federica
K1 3′-untranslated region
K1 multiple myeloma
K1 overall survival
K1 risk
K1 single nucleotide polymorphisms
K1 susceptibility
AB We 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.
YR 2020
FD 2020-11-20
LK http://hdl.handle.net/10668/16551
UL http://hdl.handle.net/10668/16551
LA en
DS RISalud
RD Apr 5, 2025