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Journal articles

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 UJ - Uniwersytet Jagielloński w Krakowie = Jagiellonian University

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.

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Cancer

Complete list of metadata

https://www.hal.inserm.fr/inserm-03480934
Contributor : Elizabeth Bernardo Connect in order to contact the contributor
Submitted on : Wednesday, December 15, 2021 - 8:32:57 AM
Last modification on : Monday, July 4, 2022 - 10:00:01 AM
Long-term archiving on: : Wednesday, March 16, 2022 - 6:13:38 PM