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A polygenic risk score for multiple myeloma risk prediction

Federico Canzian 1, * Chiara Piredda 1, 2 Angelica Macauda 1, 2 Daria Zawirska 3 Niels Frost Andersen 4 Arnon Nagler 5 Jan Maciej Zaucha 6 Grzegorz Mazur 7 Charles Dumontet 8 Marzena Wątek 9 Krzysztof Jamroziak 10 Juan Sainz 11, 12 Judit Varkonyi 13 Aleksandra Butrym 7 Katia Beider 5 Niels Abildgaard 14 Fabienne Lesueur 15 Marek Dudziński 16 Annette Juul Vangsted 17 Matteo Pelosini 2 Edyta Subocz 18 Mario Petrini 2 Gabriele Buda 2 Małgorzata Raźny 19 Federica Gemignani 2 Herlander Marques 20 Enrico Orciuolo 2 Katalin Kadar 13 Artur Jurczyszyn 21 Agnieszka Druzd-Sitek 22 Ulla Vogel 23 Helle Vibeke Andersen 24 Rui Manuel Reis 25, 20, 26 Anna Suska 21 Hervé Avet Loiseau 27 Marcin Kruszewski 28 Waldemar Tomczak 29 Marcin Rymko 30 Stephane Minvielle 31 Daniele Campa 2
* Corresponding author
1 GEP / DKFZ - Genomic Epidemiology Group [Heidelberg, Germany]
2 University of Pisa - Università di Pisa
3 SUK - University Hospital of Cracow/Szpital Uniwersytecki w Krakowie [Poland]
4 Aarhus University Hospital
5 Chaim Sheba Medical Center
6 SH - Sea Hospital [Gdynia, Poland]
7 WMU - Wroclaw Medical University [Wrocław, Pologne]
8 HCL - Hospices Civils de Lyon
9 Holycross Cancer Center of Kelce, Hematology Clinic, Kielce
10 IHTM - Institute of Hematology and Transfusion Medicine [Warsaw, Poland]
11 GENYO - Centre for Genomics and Oncological Research Pfizer [Granada, Spain]
12 HUVN - Hospital Universitario Virgen de las Nieves [Granada, Spain]
13 Semmelweis University [Budapest]
14 OUH - Odense University Hospital
15 Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe
16 TH1 - Teaching Hospital No 1 [Rzeszów, Poland]
17 KU - University of Copenhagen = Københavns Universitet
18 MIM - Military Institute of Medicine [Warsaw, Poland]
19 RSH - Rydygier Specialistic Hospital [Cracow, Poland]
20 University of Minho [Braga]
21 JUMC - Jagiellonian University Medical College [Cracow, Poland]
22 MCMCC - Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology
23 NRCWE - The National Research Center for Work Environment [Copenhagen, Denmark]
24 SDU - University of Southern Denmark
25 AL - ICVS/3B's - PT Government Associate Laboratory [Braga/Guimarães, Portugal]
26 BCH - Barretos Cancer Hospital [São Paulo, Brazil]
27 IUCT Oncopole - UMR 1037 - Institut Universitaire du Cancer de Toulouse - Oncopole
28 UHB - University Hospital Bydgoszcz [Bydgoszcz, Poland]
29 Medical University of Lublin
30 NCTH - N. Copernicus Town Hospital [Torun, Poland]
31 CRCINA-ÉQUIPE 11 - Integrative Oncogenomics of Multiple Myeloma Pathogenesis and Progression
CRCINA - Centre de Recherche en Cancérologie et Immunologie Nantes-Angers
Abstract : There is overwhelming epidemiologic evidence that the risk of multiple myeloma (MM) has a solid genetic background. Genomewide 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 × 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 × 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.
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https://www.hal.inserm.fr/inserm-03480934
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Submitted on : Wednesday, December 15, 2021 - 8:32:57 AM
Last modification on : Tuesday, January 4, 2022 - 6:13:46 AM

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Federico Canzian, Chiara Piredda, Angelica Macauda, Daria Zawirska, Niels Frost Andersen, et al.. A polygenic risk score for multiple myeloma risk prediction. European Journal of Human Genetics, Nature Publishing Group, 2021, Online ahead of print. ⟨10.1038/s41431-021-00986-8⟩. ⟨inserm-03480934⟩

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