RT Journal Article
T1 A polygenic risk score for multiple myeloma risk prediction
A1 Canzian, Federico
A1 Piredda, Chiara
A1 Macauda, Angelica
A1 Zawirska, Daria
A1 Andersen, Niels Frost
A1 Nagler, Arnon
A1 Zaucha, Jan Maciej
A1 Mazur, Grzegorz
A1 Dumontet, Charles
A1 Watek, Marzena
A1 Jamroziak, Krzysztof
A1 Sainz, Juan
A1 Varkonyi, Judit
A1 Butrym, Aleksandra
A1 Beider, Katia
A1 Abildgaard, Niels
A1 Lesueur, Fabienne
A1 Dudzinski, Marek
A1 Vangsted, Annette Juul
A1 Pelosini, Matteo
A1 Subocz, Edyta
A1 Petrini, Mario
A1 Buda, Gabriele
A1 Razny, Malgorzata
A1 Gemignani, Federica
A1 Marques, Herlander
A1 Orciuolo, Enrico
A1 Kadar, Katalin
A1 Jurczyszyn, Artur
A1 Druzd-Sitek, Agnieszka
A1 Vogel, Ulla
A1 Andersen, Vibeke
A1 Reis, Rui Manuel
A1 Suska, Anna
A1 Avet-Loiseau, Herve
A1 Kruszewski, Marcin
A1 Tomczak, Waldemar
A1 Rymko, Marcin
A1 Minvielle, Stephane
A1 Campa, Daniele
K1 Monoclonal gammopathy
K1 Stratification
K1 Polymorphisms
K1 Epidemiology
AB There is overwhelming epidemiologic evidence that the risk of multiple myeloma (MM) has a solid genetic background. Genome-wide association studies (GWAS) have identified 23 risk loci that contribute to the genetic susceptibility of MM, but have low individual penetrance. Combining the SNPs in a polygenic risk score (PRS) is a possible approach to improve their usefulness. Using 2361 MM cases and 1415 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium, we computed a weighted and an unweighted PRS. We observed associations with MM risk with OR = 3.44, 95% CI 2.53-4.69, p = 3.55 x 10(-15) for the highest vs. lowest quintile of the weighted score, and OR = 3.18, 95% CI 2.1 = 34-4.33, p = 1.62 x 10(-13) for the highest vs. lowest quintile of the unweighted score. We found a convincing association of a PRS generated with 23 SNPs and risk of MM. Our work provides additional validation of previously discovered MM risk variants and of their combination into a PRS, which is a first step towards the use of genetics for risk stratification in the general population.
PB Springernature
SN 1018-4813
YR 2021
FD 2021-11-30
LK https://hdl.handle.net/10668/26366
UL https://hdl.handle.net/10668/26366
LA en
DS RISalud
RD Apr 6, 2025