Host immune genetic variations influence the risk of developing acute myeloid leukaemia: results from the NuCLEAR consortium.


Journal

Blood cancer journal
ISSN: 2044-5385
Titre abrégé: Blood Cancer J
Pays: United States
ID NLM: 101568469

Informations de publication

Date de publication:
16 07 2020
Historique:
received: 29 05 2020
accepted: 06 07 2020
revised: 25 06 2020
entrez: 18 7 2020
pubmed: 18 7 2020
medline: 23 3 2021
Statut: epublish

Résumé

The purpose of this study was to conduct a two-stage case control association study including 654 acute myeloid leukaemia (AML) patients and 3477 controls ascertained through the NuCLEAR consortium to evaluate the effect of 27 immune-related single nucleotide polymorphisms (SNPs) on AML risk. In a pooled analysis of cohort studies, we found that carriers of the IL13

Identifiants

pubmed: 32678078
doi: 10.1038/s41408-020-00341-y
pii: 10.1038/s41408-020-00341-y
pmc: PMC7366925
doi:

Substances chimiques

Biomarkers, Tumor 0
Steroids 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

75

Références

Estey, E. & Dohner, H. Acute myeloid leukaemia. Lancet 368, 1894–1907 (2006).
pubmed: 17126723 doi: 10.1016/S0140-6736(06)69780-8
De Kouchkovsky, I. & Abdul-Hay, M. ‘Acute myeloid leukemia: a comprehensive review and 2016 update’. Blood Cancer J 6, e441 (2016).
pubmed: 27367478 pmcid: 5030376 doi: 10.1038/bcj.2016.50
Dohner, H. et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood 129, 424–447 (2017).
pubmed: 27895058 pmcid: 5291965
Dohner, K. et al. Impact of NPM1/FLT3-ITD genotypes defined by the 2017 European LeukemiaNet in patients with acute myeloid leukemia. Blood 135, 371–380 (2020).
pubmed: 31826241 pmcid: 6993016 doi: 10.1182/blood.2019002697
Vago, L. & Gojo, I. Immune escape and immunotherapy of acute myeloid leukemia. J. Clin. Invest. 130, 1552–1564 (2020).
pubmed: 32235097 doi: 10.1172/JCI129204 pmcid: 7108895
Shan, W., Ma, X. & Deng, F. Is LukS-PV a novel experimental therapy for leukemia? Gene 600, 44–47 (2017).
pubmed: 27916717 doi: 10.1016/j.gene.2016.11.044
Christopher, M. J. et al. Immune escape of relapsed AML cells after allogeneic transplantation. N. Engl. J. Med. 379, 2330–2341 (2018).
pubmed: 30380364 pmcid: 6322675 doi: 10.1056/NEJMoa1808777
Toffalori, C. et al. Immune signature drives leukemia escape and relapse after hematopoietic cell transplantation. Nat. Med. 25, 603–611 (2019).
pubmed: 30911134 doi: 10.1038/s41591-019-0400-z
Muffly, L. et al. Infusion of donor-derived CD8(+) memory T cells for relapse following allogeneic hematopoietic cell transplantation. Blood Adv. 2, 681–690 (2018).
pubmed: 29572391 pmcid: 5873230 doi: 10.1182/bloodadvances.2017012104
Lupianez, C. B. et al. Polymorphisms in host immunity-modulating genes and risk of invasive aspergillosis: results from the AspBIOmics Consortium. Infect. Immun. 84, 643–657 (2015).
pubmed: 26667837 doi: 10.1128/IAI.01359-15
Manuel Sanchez-Maldonado, J. et al. NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium. Sci. Rep. 10, 4316 (2020).
pubmed: 32152480 pmcid: 7062729 doi: 10.1038/s41598-020-61331-5
Chattopadhyay, S. et al. Eight novel loci implicate shared genetic etiology in multiple myeloma, AL amyloidosis, and monoclonal gammopathy of unknown significance. Leukemia 34, 1187–1191 (2020).
pubmed: 31695157 doi: 10.1038/s41375-019-0619-1
Rios-Tamayo, R. et al. A common variant within the HNF1B gene is associated with overall survival of multiple myeloma patients: results from the IMMEnSE consortium and meta-analysis. Oncotarget 7, 59029–59048 (2016).
pubmed: 27437873 pmcid: 5312293 doi: 10.18632/oncotarget.10665
Nyholt, D. R. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am. J. Hum. Genet. 74, 765–769 (2004).
pubmed: 14997420 pmcid: 1181954 doi: 10.1086/383251
Li, Y. et al. A functional genomics approach to understand variation in cytokine production in humans. Cell 167, 1099–1110 e1014 (2016).
pubmed: 27814507 doi: 10.1016/j.cell.2016.10.017
Schirmer, M. et al. Linking the human gut microbiome to inflammatory cytokine production capacity. Cell 167, 1897 (2016).
pubmed: 27984736 doi: 10.1016/j.cell.2016.11.046
Ter Horst, R. et al. Host and environmental factors influencing individual human cytokine responses. Cell 167, 1111–1124 e1113 (2016).
pubmed: 27814508 pmcid: 5787854 doi: 10.1016/j.cell.2016.10.018
Moffatt, M. F. et al. A large-scale, consortium-based genomewide association study of asthma. N. Engl. J. Med. 363, 1211–1221 (2010).
pubmed: 20860503 pmcid: 4260321 doi: 10.1056/NEJMoa0906312
Pickrell, J. K. et al. Detection and interpretation of shared genetic influences on 42 human traits. Nat. Genet. 48, 709–717 (2016).
pubmed: 27182965 pmcid: 5207801 doi: 10.1038/ng.3570
Urayama, K. Y. et al. Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. J. Natl. Cancer Inst. 104, 240–253 (2012).
pubmed: 22286212 pmcid: 3274508 doi: 10.1093/jnci/djr516
Bruserud, O. et al. Interleukin 1 receptor antagonist (IL1RA) in acute leukaemia: IL1RA is both secreted spontaneously by myelogenous leukaemia blasts and is a part of the acute phase reaction in patients with chemotherapy-induced leucopenia. Eur. J. Haematol. 57, 87–95 (1996).
pubmed: 8698137 doi: 10.1111/j.1600-0609.1996.tb00495.x
Estrov, Z. et al. Inhibition of acute myelogenous leukemia blast proliferation by interleukin-1 (IL-1) receptor antagonist and soluble IL-1 receptors. Blood 79, 1938–1945 (1992).
pubmed: 1373331 doi: 10.1182/blood.V79.8.1938.1938
Luz-Crawford, P. et al. Mesenchymal stem cell-derived interleukin 1 receptor antagonist promotes macrophage polarization and inhibits B cell differentiation. Stem Cells 34, 483–492 (2016).
pubmed: 26661518 doi: 10.1002/stem.2254
Singh, J. K., Simoes, B. M., Howell, S. J., Farnie, G. & Clarke, R. B. Recent advances reveal IL-8 signaling as a potential key to targeting breast cancer stem cells. Breast Cancer Res. 15, 210 (2013).
pubmed: 24041156 pmcid: 3978717 doi: 10.1186/bcr3436
Wang, S. et al. CXCR2 macromolecular complex in pancreatic cancer: a potential therapeutic target in tumor growth. Transl. Oncol. 6, 216–225 (2013).
pubmed: 23544174 pmcid: 3610555 doi: 10.1593/tlo.13133
Ning, Y. et al. The CXCR2 antagonist, SCH-527123, shows antitumor activity and sensitizes cells to oxaliplatin in preclinical colon cancer models. Mol. Cancer Ther. 11, 1353–1364 (2012).
pubmed: 22391039 doi: 10.1158/1535-7163.MCT-11-0915
Jamieson, T. et al. Inhibition of CXCR2 profoundly suppresses inflammation-driven and spontaneous tumorigenesis. J. Clin. Invest. 122, 3127–3144 (2012).
pubmed: 22922255 pmcid: 3428079 doi: 10.1172/JCI61067
Schinke, C. et al. IL8-CXCR2 pathway inhibition as a therapeutic strategy against MDS and AML stem cells. Blood 125, 3144–3152 (2015).
pubmed: 25810490 pmcid: 4432009 doi: 10.1182/blood-2015-01-621631
Waugh, D. J. & Wilson, C. The interleukin-8 pathway in cancer. Clin. Cancer Res. 14, 6735–6741 (2008).
pubmed: 18980965 doi: 10.1158/1078-0432.CCR-07-4843
Sharma, B., Nawandar, D. M., Nannuru, K. C., Varney, M. L. & Singh, R. K. Targeting CXCR2 enhances chemotherapeutic response, inhibits mammary tumor growth, angiogenesis, and lung metastasis. Mol. Cancer Ther. 12, 799–808 (2013).
pubmed: 23468530 doi: 10.1158/1535-7163.MCT-12-0529
Lee, Y. S. et al. Interleukin-8 and its receptor CXCR2 in the tumour microenvironment promote colon cancer growth, progression and metastasis. Br. J. Cancer 106, 1833–1841 (2012).
pubmed: 22617157 pmcid: 3364111 doi: 10.1038/bjc.2012.177
Onishi, S. et al. Toll-like receptor 2-mediated interleukin-8 expression in gingival epithelial cells by the Tannerella forsythia leucine-rich repeat protein BspA. Infect. Immun. 76, 198–205 (2008).
pubmed: 17967853 doi: 10.1128/IAI.01139-07
Oliveira-Nascimento, L., Massari, P. & Wetzler, L. M. The role of TLR2 in infection and immunity. Front. Immunol. 3, 79 (2012).
pubmed: 22566960 pmcid: 3342043 doi: 10.3389/fimmu.2012.00079
Sabroe, I. et al. Selective roles for Toll-like receptor (TLR)2 and TLR4 in the regulation of neutrophil activation and life span. J. Immunol. 170, 5268–5275 (2003).
pubmed: 12734376 doi: 10.4049/jimmunol.170.10.5268
Ghosh, T. K. et al. Toll-like receptor (TLR) 2-9 agonists-induced cytokines and chemokines: I. Comparison with T cell receptor-induced responses. Cell Immunol. 243, 48–57 (2006).
pubmed: 17250816 doi: 10.1016/j.cellimm.2006.12.002
Okamoto, M. et al. Toll-like receptors (TLRs) are expressed by myeloid leukaemia cell lines, but fail to trigger differentiation in response to the respective TLR ligands. Br. J. Haematol. 147, 585–587 (2009).
pubmed: 19673881 doi: 10.1111/j.1365-2141.2009.07858.x
Li, K. et al. Targeting acute myeloid leukemia with a proapoptotic peptide conjugated to a Toll-like receptor 2-mediated cell-penetrating peptide. Int. J. Cancer 134, 692–702 (2014).
pubmed: 23852533 doi: 10.1002/ijc.28382
Kuett, A. et al. IL-8 as mediator in the microenvironment-leukaemia network in acute myeloid leukaemia. Sci. Rep. 5, 18411 (2015).
pubmed: 26674118 pmcid: 4682064 doi: 10.1038/srep18411
Vijay, V. et al. Interleukin-8 blockade prevents activated endothelial cell mediated proliferation and chemoresistance of acute myeloid leukemia. Leuk. Res. 84, 106180 (2019).
pubmed: 31299413 pmcid: 6857733 doi: 10.1016/j.leukres.2019.106180
Weidenaar, A. C. et al. High acute myeloid leukemia derived VEGFA levels are associated with a specific vascular morphology in the leukemic bone marrow. Cell Oncol. (Dordr) 34, 289–296 (2011).
doi: 10.1007/s13402-011-0017-9
Aguayo, A. et al. Angiogenesis in acute and chronic leukemias and myelodysplastic syndromes. Blood 96, 2240–2245 (2000).
pubmed: 10979972 doi: 10.1182/blood.V96.6.2240
Kim, D. H., Lee, N. Y., Lee, M. H. & Sohn, S. K. Vascular endothelial growth factor gene polymorphisms may predict the risk of acute graft-versus-host disease following allogeneic transplantation: preventive effect of vascular endothelial growth factor gene on acute graft-versus-host disease. Biol. Blood Marrow Transplant. 14, 1408–1416 (2008).
pubmed: 19041064 doi: 10.1016/j.bbmt.2008.09.022
Swertz, M. A. et al. The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button. BMC Bioinformatics 11(Suppl 12), S12 (2010).
pubmed: 21210979 pmcid: 3040526 doi: 10.1186/1471-2105-11-S12-S12
Wilkinson, M. D. et al. The FAIR Guiding Principles for scientific data management and stewardship. Sci. Data 3, 160018 (2016).
pubmed: 26978244 pmcid: 4792175 doi: 10.1038/sdata.2016.18
Westra, H. J. et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat. Genet. 45, 1238–1243 (2013).
pubmed: 24013639 pmcid: 3991562 doi: 10.1038/ng.2756

Auteurs

J M Sánchez-Maldonado (JM)

Genomic Oncology Area, GENYO, Centre for Genomics and Oncological Research: Pfizer / University of Granada / Andalusian Regional Government, PTS Granada, Granada, Spain.
Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain.

D Campa (D)

Department of Genetics, University of Pisa, Pisa, Italy.

J Springer (J)

Universitätsklinikum Würzburg, Medizinische Klinik II, Würzburg, Germany.

J Badiola (J)

Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain.

Y Niazi (Y)

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.

A Moñiz-Díez (A)

Genomic Oncology Area, GENYO, Centre for Genomics and Oncological Research: Pfizer / University of Granada / Andalusian Regional Government, PTS Granada, Granada, Spain.
Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain.

F Hernández-Mohedo (F)

Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain.

P González-Sierra (P)

Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain.

R Ter Horst (R)

Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

A Macauda (A)

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

S Brezina (S)

Institute of Cancer Research, Department of Medicine I, Medical University of Vienna, Vienna, Austria.

C Cunha (C)

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Guimarães, Portugal.

M Lackner (M)

Division of Hygiene and Medical Microbiology, Medical University of Innsbruck, Innsbruck, Austria.

M A López-Nevot (MA)

Immunology department, Virgen de las Nieves University Hospital, Granada, Spain.

L Fianchi (L)

Istituto di Ematologia, Università Cattolica del S. Cuore, Rome, Italy.

L Pagano (L)

Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, AOU Policlinico, Modena, Italy.

E López-Fernández (E)

Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain.

L Potenza (L)

Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, AOU Policlinico, Modena, Italy.

M Luppi (M)

Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, AOU Policlinico, Modena, Italy.

L Moratalla (L)

Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain.

J J Rodríguez-Sevilla (JJ)

Hematology department, Hospital del Mar, Barcelona, Spain.

J E Fonseca (JE)

Rheumatology and Metabolic Bone Diseases department, Hospital de Santa Maria, CHLN, Lisbon, Portugal.
Rheumatology Research Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon Academic Medical Center, Lisbon, Portugal.

M Tormo (M)

Hematology department, Hospital Clinico Universitario-INCLIVA, University of Valencia, Valencia, Spain.

C Solano (C)

Hematology department, Hospital Clinico Universitario-INCLIVA, University of Valencia, Valencia, Spain.

E Clavero (E)

Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.

A Romero (A)

Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.

Y Li (Y)

Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Centre for Individualised Infection Medicine (CiiM) & TWINCORE, joint ventures between the Helmholtz-Centre for Infection Research (HZI) and the Hannover Medical School (MHH), Hannover, Germany.

C Lass-Flörl (C)

Division of Hygiene and Medical Microbiology, Medical University of Innsbruck, Innsbruck, Austria.

H Einsele (H)

Universitätsklinikum Würzburg, Medizinische Klinik II, Würzburg, Germany.

L Vazquez (L)

Hematology department, University Hospital of Salamanca, Salamanca, Spain.

J Loeffler (J)

Universitätsklinikum Würzburg, Medizinische Klinik II, Würzburg, Germany.

K Hemminki (K)

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Division of Cancer Epidemiology, German Cancer Research Centre (DKFZ), 69120, Heidelberg, Germany.
Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, 30605, Pilsen, Czech Republic.

A Carvalho (A)

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Guimarães, Portugal.

M G Netea (MG)

Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Department for Immunology & Metabolism, Life and Medical Sciences Institute (LIMES), University of Bonn, 53115, Bonn, Germany.

A Gsur (A)

Institute of Cancer Research, Department of Medicine I, Medical University of Vienna, Vienna, Austria.

C Dumontet (C)

Université Claude Bernard Lyon I, Lyon, France.

F Canzian (F)

Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.

A Försti (A)

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.

M Jurado (M)

Genomic Oncology Area, GENYO, Centre for Genomics and Oncological Research: Pfizer / University of Granada / Andalusian Regional Government, PTS Granada, Granada, Spain.
Hematology department, Virgen de las Nieves University Hospital, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain.

J Sainz (J)

Genomic Oncology Area, GENYO, Centre for Genomics and Oncological Research: Pfizer / University of Granada / Andalusian Regional Government, PTS Granada, Granada, Spain. juan.sainz@genyo.es.
Hematology department, Virgen de las Nieves University Hospital, Granada, Spain. juan.sainz@genyo.es.
Instituto de Investigación Biosanitaria de Granada (ibs.Granada), Complejo Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain. juan.sainz@genyo.es.
Department of Medicine, University of Granada, Granada, Spain. juan.sainz@genyo.es.

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