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

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Harvard

Melaiu, O, Macauda, A, Sainz, J, Calvetti, D, Facioni, MS, Maccari, G, Ter Horst, R, Netea, MG, Li, Y, Grząśko, N, Moreno, V, Jurczyszyn, A, Jerez, A, Watek, M, Varkonyi, J, Garcia-Sanz, R, Kruszewski, M, Dudziński, M, Kadar, K, Jacobsen, SEH, Mazur, G, Andersen, V, Rybicka, M, Zawirska, D, Raźny, M, Zaucha, JM, Ostrovsky, O, Iskierka-Jazdzewska, E, Reis, RM, Stępień, A, Beider, K, Nagler, A, Druzd-Sitek, A, Marques, H, Martìnez-Lopez, J, Lesueur, F, Avet-Loiseau, H, Vangsted, AJ, Krawczyk-Kulis, M, Butrym, A, Jamroziak, K, Dumontet, C, Vogel, U, Rymko, M, Pelosini, M, Subocz, E, Szombath, G, Sarasquete, ME, Silvestri, R, Morani, F, Landi, S, Campa, D, Canzian, F & Gemignani, F 2021, 'Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival', International Journal of Cancer, bind 148, nr. 8, s. 1887-1894. https://doi.org/10.1002/ijc.33377

APA

Melaiu, O., Macauda, A., Sainz, J., Calvetti, D., Facioni, M. S., Maccari, G., Ter Horst, R., Netea, M. G., Li, Y., Grząśko, N., Moreno, V., Jurczyszyn, A., Jerez, A., Watek, M., Varkonyi, J., Garcia-Sanz, R., Kruszewski, M., Dudziński, M., Kadar, K., ... Gemignani, F. (2021). Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival. International Journal of Cancer, 148(8), 1887-1894. https://doi.org/10.1002/ijc.33377

CBE

Melaiu O, Macauda A, Sainz J, Calvetti D, Facioni MS, Maccari G, Ter Horst R, Netea MG, Li Y, Grząśko N, Moreno V, Jurczyszyn A, Jerez A, Watek M, Varkonyi J, Garcia-Sanz R, Kruszewski M, Dudziński M, Kadar K, Jacobsen SEH, Mazur G, Andersen V, Rybicka M, Zawirska D, Raźny M, Zaucha JM, Ostrovsky O, Iskierka-Jazdzewska E, Reis RM, Stępień A, Beider K, Nagler A, Druzd-Sitek A, Marques H, Martìnez-Lopez J, Lesueur F, Avet-Loiseau H, Vangsted AJ, Krawczyk-Kulis M, Butrym A, Jamroziak K, Dumontet C, Vogel U, Rymko M, Pelosini M, Subocz E, Szombath G, Sarasquete ME, Silvestri R, Morani F, Landi S, Campa D, Canzian F, Gemignani F. 2021. Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival. International Journal of Cancer. 148(8):1887-1894. https://doi.org/10.1002/ijc.33377

MLA

Vancouver

Author

Melaiu, Ombretta ; Macauda, Angelica ; Sainz, Juan ; Calvetti, Diego ; Facioni, Maria Sole ; Maccari, Giuseppe ; Ter Horst, Rob ; Netea, Mihai G ; Li, Yang ; Grząśko, Norbert ; Moreno, Victor ; Jurczyszyn, Artur ; Jerez, Andrés ; Watek, Marzena ; Varkonyi, Judit ; Garcia-Sanz, Ramon ; Kruszewski, Marcin ; Dudziński, Marek ; Kadar, Katalin ; Jacobsen, Svend Erik Hove ; Mazur, Grzegorz ; Andersen, Vibeke ; Rybicka, Malwina ; Zawirska, Daria ; Raźny, Malgorzata ; Zaucha, Jan Maciej ; Ostrovsky, Olga ; Iskierka-Jazdzewska, Elzbieta ; Reis, Rui Manuel ; Stępień, Anna ; Beider, Katia ; Nagler, Arnon ; Druzd-Sitek, Agnieszka ; Marques, Herlander ; Martìnez-Lopez, Joaquin ; Lesueur, Fabienne ; Avet-Loiseau, Hervé ; Vangsted, Annette Juul ; Krawczyk-Kulis, Malgorzata ; Butrym, Aleksandra ; Jamroziak, Krzysztof ; Dumontet, Charles ; Vogel, Ulla ; Rymko, Marcin ; Pelosini, Matteo ; Subocz, Edyta ; Szombath, Gergely ; Sarasquete, Maria Eugenia ; Silvestri, Roberto ; Morani, Federica ; Landi, Stefano ; Campa, Daniele ; Canzian, Federico ; Gemignani, Federica. / Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival. I: International Journal of Cancer. 2021 ; Bind 148, Nr. 8. s. 1887-1894.

Bibtex

@article{f928f15cf21d467f93f52beb0a50cad8,
title = "Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival",
abstract = "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.",
keywords = "3′-untranslated region, multiple myeloma, overall survival, risk, single nucleotide polymorphisms, susceptibility, &#8208, 3&#8242, untranslated region",
author = "Ombretta Melaiu and Angelica Macauda and Juan Sainz and Diego Calvetti and Facioni, {Maria Sole} and Giuseppe Maccari and {Ter Horst}, Rob and Netea, {Mihai G} and Yang Li and Norbert Grz{\c a}{\'s}ko and Victor Moreno and Artur Jurczyszyn and Andr{\'e}s Jerez and Marzena Watek and Judit Varkonyi and Ramon Garcia-Sanz and Marcin Kruszewski and Marek Dudzi{\'n}ski and Katalin Kadar and Jacobsen, {Svend Erik Hove} and Grzegorz Mazur and Vibeke Andersen and Malwina Rybicka and Daria Zawirska and Malgorzata Ra{\'z}ny and Zaucha, {Jan Maciej} and Olga Ostrovsky and Elzbieta Iskierka-Jazdzewska and Reis, {Rui Manuel} and Anna St{\c e}pie{\'n} and Katia Beider and Arnon Nagler and Agnieszka Druzd-Sitek and Herlander Marques and Joaquin Mart{\`i}nez-Lopez and Fabienne Lesueur and Herv{\'e} Avet-Loiseau and Vangsted, {Annette Juul} and Malgorzata Krawczyk-Kulis and Aleksandra Butrym and Krzysztof Jamroziak and Charles Dumontet and Ulla Vogel and Marcin Rymko and Matteo Pelosini and Edyta Subocz and Gergely Szombath and Sarasquete, {Maria Eugenia} and Roberto Silvestri and Federica Morani and Stefano Landi and Daniele Campa and Federico Canzian and Federica Gemignani",
note = "{\textcopyright} 2020 Union for International Cancer Control.",
year = "2021",
month = apr,
day = "15",
doi = "10.1002/ijc.33377",
language = "English",
volume = "148",
pages = "1887--1894",
journal = "International Journal of Cancer",
issn = "0020-7136",
publisher = "JohnWiley & Sons, Inc",
number = "8",

}

RIS

TY - JOUR

T1 - Common gene variants within 3'-untranslated regions as modulators of multiple myeloma risk and survival

AU - Melaiu, Ombretta

AU - Macauda, Angelica

AU - Sainz, Juan

AU - Calvetti, Diego

AU - Facioni, Maria Sole

AU - Maccari, Giuseppe

AU - Ter Horst, Rob

AU - Netea, Mihai G

AU - Li, Yang

AU - Grząśko, Norbert

AU - Moreno, Victor

AU - Jurczyszyn, Artur

AU - Jerez, Andrés

AU - Watek, Marzena

AU - Varkonyi, Judit

AU - Garcia-Sanz, Ramon

AU - Kruszewski, Marcin

AU - Dudziński, Marek

AU - Kadar, Katalin

AU - Jacobsen, Svend Erik Hove

AU - Mazur, Grzegorz

AU - Andersen, Vibeke

AU - Rybicka, Malwina

AU - Zawirska, Daria

AU - Raźny, Malgorzata

AU - Zaucha, Jan Maciej

AU - Ostrovsky, Olga

AU - Iskierka-Jazdzewska, Elzbieta

AU - Reis, Rui Manuel

AU - Stępień, Anna

AU - Beider, Katia

AU - Nagler, Arnon

AU - Druzd-Sitek, Agnieszka

AU - Marques, Herlander

AU - Martìnez-Lopez, Joaquin

AU - Lesueur, Fabienne

AU - Avet-Loiseau, Hervé

AU - Vangsted, Annette Juul

AU - Krawczyk-Kulis, Malgorzata

AU - Butrym, Aleksandra

AU - Jamroziak, Krzysztof

AU - Dumontet, Charles

AU - Vogel, Ulla

AU - Rymko, Marcin

AU - Pelosini, Matteo

AU - Subocz, Edyta

AU - Szombath, Gergely

AU - Sarasquete, Maria Eugenia

AU - Silvestri, Roberto

AU - Morani, Federica

AU - Landi, Stefano

AU - Campa, Daniele

AU - Canzian, Federico

AU - Gemignani, Federica

N1 - © 2020 Union for International Cancer Control.

PY - 2021/4/15

Y1 - 2021/4/15

N2 - 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.

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.

KW - 3′-untranslated region

KW - multiple myeloma

KW - overall survival

KW - risk

KW - single nucleotide polymorphisms

KW - susceptibility

KW - &#8208

KW - 3&#8242

KW - untranslated region

UR - http://www.scopus.com/inward/record.url?scp=85096652041&partnerID=8YFLogxK

U2 - 10.1002/ijc.33377

DO - 10.1002/ijc.33377

M3 - Journal article

C2 - 33152124

VL - 148

SP - 1887

EP - 1894

JO - International Journal of Cancer

JF - International Journal of Cancer

SN - 0020-7136

IS - 8

ER -

ID: 62328078