A polygenic risk score for multiple myeloma risk prediction.


Journal

European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235

Informations de publication

Date de publication:
04 2022
Historique:
received: 25 03 2020
accepted: 08 10 2021
revised: 04 10 2021
pubmed: 1 12 2021
medline: 12 4 2022
entrez: 30 11 2021
Statut: ppublish

Résumé

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 × 10

Identifiants

pubmed: 34845334
doi: 10.1038/s41431-021-00986-8
pii: 10.1038/s41431-021-00986-8
pmc: PMC8991223
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

474-479

Informations de copyright

© 2021. The Author(s).

Références

Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68:394–424.
doi: 10.3322/caac.21492
Kyle RA, Therneau TM, Rajkumar SV, Larson DR, Plevak MF, Offord JR, et al. Prevalence of monoclonal gammopathy of undetermined significance. N Engl J Med. 2006;354:1362–9.
doi: 10.1056/NEJMoa054494
Kyle RA, Larson DR, Therneau TM, Dispenzieri A, Kumar S, Cerhan JR, et al. Long-term follow-up of monoclonal gammopathy of undetermined significance. N Engl J Med. 2018;378:241–9.
doi: 10.1056/NEJMoa1709974
Agarwal A, Ghobrial IM. Monoclonal gammopathy of undetermined significance and smoldering multiple myeloma: a review of the current understanding of epidemiology, biology, risk stratification, and management of myeloma precursor disease. Clin Cancer Res. 2013;19:985–94.
doi: 10.1158/1078-0432.CCR-12-2922
Broderick P, Chubb D, Johnson DC, Weinhold N, Försti A, Lloyd A, et al. Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nat Genet. 2011;44:58–61.
doi: 10.1038/ng.993
Martino A, Sainz J, Buda G, Jamroziak K, Reis RM, García-Sanz R, et al. Genetics and molecular epidemiology of multiple myeloma: the rationale for the IMMEnSE consortium (review). Int J Oncol. 2012;40:625–38.
pubmed: 22159523
Chubb D, Weinhold N, Broderick P, Chen B, Johnson DC, Försti A, et al. Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. Nat Genet. 2013;45:1221–5.
doi: 10.1038/ng.2733
Weinhold N, Johnson DC, Chubb D, Chen B, Försti A, Hosking FJ, et al. The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. Nat Genet. 2013;45:522–5.
doi: 10.1038/ng.2583
Erickson SW, Raj VR, Stephens OW, Dhakal I, Chavan SS, Sanathkumar N, et al. Genome-wide scan identifies variant in 2q12.3 associated with risk for multiple myeloma. Blood. 2014;124:2001–3.
doi: 10.1182/blood-2014-07-586701
Campa D, Martino A, Varkonyi J, Lesueur F, Jamroziak K, Landi S, et al. Risk of multiple myeloma is associated with polymorphisms within telomerase genes and telomere length. Int J Cancer. 2015;136:E351–358.
doi: 10.1002/ijc.29101
Campa D, Martino A, Macauda A, Dudziński M, Suska A, Druzd-Sitek A, et al. Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study. Leuk Lymphoma. 2019;60:1803–11.
doi: 10.1080/10428194.2018.1551536
Macauda A, Castelli E, Buda G, Pelosini M, Butrym A, Watek M, et al. Inherited variation in the xenobiotic transporter pathway and survival of multiple myeloma patients. Br J Haematol. 2018;183:375–84.
doi: 10.1111/bjh.15521
Martino A, Campa D, Buda G, Sainz J, García-Sanz R, Jamroziak K, et al. Polymorphisms in xenobiotic transporters ABCB1, ABCG2, ABCC2, ABCC1, ABCC3 and multiple myeloma risk: a case-control study in the context of the International Multiple Myeloma rESEarch (IMMEnSE) consortium. Leukemia. 2012;26:1419–22.
doi: 10.1038/leu.2011.352
Swaminathan B, Thorleifsson G, Jöud M, Ali M, Johnsson E, Ajore R, et al. Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. Nat Commun. 2015;6:7213.
doi: 10.1038/ncomms8213
Mitchell JS, Li N, Weinhold N, Försti A, Ali M, van Duin M, et al. Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. Nat Commun. 2016;7:12050.
doi: 10.1038/ncomms12050
Halvarsson B-M, Wihlborg A-K, Ali M, Lemonakis K, Johnsson E, Niroula A, et al. Direct evidence for a polygenic etiology in familial multiple myeloma. Blood Adv. 2017;1:619–23.
doi: 10.1182/bloodadvances.2016003111
Went M, Sud A, Försti A, Halvarsson B-M, Weinhold N, Kimber S, et al. Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma. Nat Commun. 2018;9:3707.
doi: 10.1038/s41467-018-04989-w
Pertesi M, Vallée M, Wei X, Revuelta MV, Galia P, Demangel D, et al. Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma. Leukemia. 2019;33:2324–30.
doi: 10.1038/s41375-019-0452-6
Wei X, Calvo-Vidal MN, Chen S, Wu G, Revuelta MV, Sun J, et al. Germline lysine-specific demethylase 1 (LSD1/KDM1A) mutations confer susceptibility to multiple myeloma. Cancer Res. 2018;78:2747–59.
doi: 10.1158/0008-5472.CAN-17-1900
Went M, Sud A, Speedy H, Sunter NJ, Försti A, Law PJ, et al. Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology. Blood Cancer J. 2018;9:1.
doi: 10.1038/s41408-018-0162-8
Pertesi M, Went M, Hansson M, Hemminki K, Houlston RS, Nilsson B. Genetic predisposition for multiple myeloma. Leukemia. 2020;34:697–708.
doi: 10.1038/s41375-019-0703-6
Burton H, Chowdhury S, Dent T, Hall A, Pashayan N, Pharoah P. Public health implications from COGS and potential for risk stratification and screening. Nat Genet. 2013;45:349–51.
doi: 10.1038/ng.2582
Hsu L, Jeon J, Brenner H, Gruber SB, Schoen RE, Berndt SI, et al. A model to determine colorectal cancer risk using common genetic susceptibility loci. Gastroenterology. 2015;148:1330–9.e14.
doi: 10.1053/j.gastro.2015.02.010
Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, et al. Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores. J Clin Oncol. 2017;35:2240–50.
doi: 10.1200/JCO.2016.69.4935
Torkamani A, Wineinger NE, Topol EJ. The personal and clinical utility of polygenic risk scores. Nat Rev Genet. 2018;19:581–90.
doi: 10.1038/s41576-018-0018-x
Seibert TM, Fan CC, Wang Y, Zuber V, Karunamuni R, Parsons JK, et al. Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts. BMJ. 2018;360:j5757.
doi: 10.1136/bmj.j5757
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, et al. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am J Hum Genet. 2019;104:21–34.
doi: 10.1016/j.ajhg.2018.11.002
Galeotti AA, Gentiluomo M, Rizzato C, Obazee O, Neoptolemos JP, Pasquali C, et al. Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction. J Med Genet. 2021;58:369–77.
doi: 10.1136/jmedgenet-2020-106961
Halvarsson B-M, Wihlborg A-K, Ali M, Lemonakis K, Johnsson E, Niroula A, et al. Direct evidence for a polygenic etiology in familial multiple myeloma. Blood Adv. 2017;1:619–23.
doi: 10.1182/bloodadvances.2016003111
Du Z, Weinhold N, Song GC, Rand KA, Van Den Berg DJ, Hwang AE, et al. A meta-analysis of genome-wide association studies of multiple myeloma among men and women of African ancestry. Blood Adv. 2020;4:181–90.
doi: 10.1182/bloodadvances.2019000491
Rajkumar SV. Updated diagnostic criteria and staging system for multiple myeloma. Am Soc Clin Oncol Educ Book. 2016;35:e418–23.
doi: 10.1200/EDBK_159009
Kumar SK, Rajkumar V, Kyle RA, van Duin M, Sonneveld P, Mateos M-V, et al. Multiple myeloma. Nat Rev Dis Prim. 2017;3:17046.
doi: 10.1038/nrdp.2017.46

Auteurs

Federico Canzian (F)

Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany. f.canzian@dkfz.de.

Chiara Piredda (C)

Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Department of Biology, University of Pisa, Pisa, Italy.

Angelica Macauda (A)

Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Department of Biology, University of Pisa, Pisa, Italy.

Daria Zawirska (D)

Department of Hematology, University Hospital of Cracow, Cracow, Poland.

Niels Frost Andersen (NF)

Department of Hematology, Aarhus University Hospital, Aarhus, Denmark.

Arnon Nagler (A)

Hematology Division, Chaim Sheba Medical Center, Tel Hashomer, Israel.

Jan Maciej Zaucha (JM)

Department of Hematology, Sea Hospital, Gdynia, Poland.

Grzegorz Mazur (G)

Department of Internal and Occupational Diseases, Hypertension and Clinical Oncology, Medical University Wroclaw, Wroclaw, Poland.

Charles Dumontet (C)

Cancer Research Center of Lyon/Hospices Civils de Lyon, Lyon, France.

Marzena Wątek (M)

Hematology Clinic, Holycross Cancer Center, Kielce, Poland.

Krzysztof Jamroziak (K)

Department of Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland.

Juan Sainz (J)

Genomic Oncology Area, GENYO. Centre for Genomics and Oncological Research: Pfizer, University of Granada/Andalusian Regional Government, Granada, Spain.
Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.

Judit Várkonyi (J)

Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary.

Aleksandra Butrym (A)

Department of Internal and Occupational Diseases, Medical University Wroclaw, Wroclaw, Poland.

Katia Beider (K)

Hematology Division, Chaim Sheba Medical Center, Tel Hashomer, Israel.

Niels Abildgaard (N)

Department of Hematology, Odense University Hospital, Odense, Denmark.

Fabienne Lesueur (F)

Institut Curie, PSL Research University, Mines ParisTech Inserm, U900, Paris, France.

Marek Dudziński (M)

Hematology Department, Teaching Hospital No 1, Rzeszów, Poland.

Annette Juul Vangsted (AJ)

Department of Hematology, Rigshospitalet, Copenhagen University, Copenhagen, Denmark.

Matteo Pelosini (M)

Clinical and Experimental Medicine, Section of Hematology, University of Pisa, Pisa, Italy.

Edyta Subocz (E)

Department of Haematology, Military Institute of Medicine, Warsaw, Poland.

Mario Petrini (M)

Clinical and Experimental Medicine, Section of Hematology, University of Pisa, Pisa, Italy.

Gabriele Buda (G)

Clinical and Experimental Medicine, Section of Hematology, University of Pisa, Pisa, Italy.

Małgorzata Raźny (M)

Department of Hematology, Rydygier Specialistic Hospital, Cracow, Poland.

Federica Gemignani (F)

Department of Biology, University of Pisa, Pisa, Italy.

Herlander Marques (H)

Life and Health Sciences Research Institute (ICVS), School of Health Sciences/Molecular Oncology Research Center, University of Minho, Braga, Portugal.

Enrico Orciuolo (E)

Clinical and Experimental Medicine, Section of Hematology, University of Pisa, Pisa, Italy.

Katalin Kadar (K)

Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary.

Artur Jurczyszyn (A)

Department of Hematology, Jagiellonian University Medical College, Cracow, Poland.

Agnieszka Druzd-Sitek (A)

Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Ulla Vogel (U)

National Research Centre for the Working Environment, DK-2100, Copenhagen, Denmark.

Vibeke Andersen (V)

Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.

Rui Manuel Reis (RM)

Life and Health Sciences Research Institute (ICVS), School of Health Sciences/Molecular Oncology Research Center, University of Minho, Braga, Portugal.
ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Molecular Oncology Research Center, Barretos Cancer Hospital, S.Paulo, Brazil.

Anna Suska (A)

Department of Hematology, Jagiellonian University Medical College, Cracow, Poland.

Hervé Avet-Loiseau (H)

Unité de Génomique du Myélome, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France.

Marcin Kruszewski (M)

Department of Hematology, University Hospital Bydgoszcz, Bydgoszcz, Poland.

Waldemar Tomczak (W)

Medical University of Lublin, Lublin, Poland.

Marcin Rymko (M)

Department of Hematology, N. Copernicus Town Hospital, Torun, Poland.

Stephane Minvielle (S)

CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.

Daniele Campa (D)

Department of Biology, University of Pisa, Pisa, Italy.

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