PDCD1 and PDCD1LG1 polymorphisms affect the susceptibility to multiple myeloma.
Adult
Aged
Aged, 80 and over
B7-H1 Antigen
/ genetics
CTLA-4 Antigen
/ genetics
Case-Control Studies
Female
Gene Expression Regulation, Neoplastic
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Multiple Myeloma
/ genetics
Polymorphism, Single Nucleotide
Programmed Cell Death 1 Receptor
/ genetics
Survival Analysis
Up-Regulation
Multiple myeloma
Polymorphism
Programmed cell death protein-1
Programmed cell death protein-1 ligand-1
Journal
Clinical and experimental medicine
ISSN: 1591-9528
Titre abrégé: Clin Exp Med
Pays: Italy
ID NLM: 100973405
Informations de publication
Date de publication:
Feb 2020
Feb 2020
Historique:
received:
07
08
2019
accepted:
05
10
2019
pubmed:
18
10
2019
medline:
2
10
2020
entrez:
18
10
2019
Statut:
ppublish
Résumé
Single-nucleotide polymorphisms (SNPs) of the programmed cell death protein-1 (PDCD1), programmed cell death protein-1 ligand-1 (PDCD1LG1), and cytotoxic T lymphocyte-associated antigen-4 (CTLA4) genes are implicated in the pathogenesis of some cancers. We investigated the role of PDCD1, PDCD1LG1, and CTLA4 SNPs in MM pathogenesis and the susceptibility to and clinical features of multiple myeloma (MM). We obtained genomic DNA from 124 patients with MM and 211 healthy controls and detected PDCD1 (rs36084323, rs41386349, and rs2227982), PDCD1LG1 (rs2297136 and rs4143815), and CTLA4 (rs733618, rs11571316, rs231775, and rs3087243) genotypes using the polymerase chain reaction-restriction fragment length polymorphism method or the TaqMan allelic discrimination real-time PCR method. The patients with MM had a significantly higher frequency of the PDCD1 GCC/GCC haplotype (rs36084323/rs41386349/rs2227982) compared with the healthy controls. PDCD1 rs2227982 CC genotype was associated significantly with a higher frequency of bone lesions. Patients with PDCD1LG1 rs2297136 TT and TC types (high-expression types) showed lower albumin level than those with CC genotype. In addition, the PDCD1LG1 rs4143815 CC and CG types (high-expression types) were associated significantly with higher frequency of patients who were treated with thalidomide and/or bortezomib. However, there was no statistical significance between CTLA4 polymorphisms and clinical variables of patients with MM. There were no significant differences between all the polymorphisms and OS. Our study indicates that the PDCD1 haplotype is associated with a susceptibility to MM. The PDCD1 rs2227982 and PDCD1LG1 rs2297136 affect the clinical features of multiple myeloma patients.
Identifiants
pubmed: 31620907
doi: 10.1007/s10238-019-00585-4
pii: 10.1007/s10238-019-00585-4
doi:
Substances chimiques
B7-H1 Antigen
0
CD274 protein, human
0
CTLA-4 Antigen
0
CTLA4 protein, human
0
PDCD1 protein, human
0
Programmed Cell Death 1 Receptor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
51-62Subventions
Organisme : JSPS KAKENHI
ID : JP 16K19190
Références
Kyle RA, Gertz MA, Witzig TE, et al. Review of 1027 patients with newly diagnosed multiple myeloma. Mayo Clin Proc. 2003;78(1):21–33.
doi: 10.4065/78.1.21
Merchionne F, Perosa F, Dammacco F. New therapies in multiple myeloma. Clin Exp Med. 2007;7(3):83–97.
doi: 10.1007/s10238-007-0134-y
Anderson KC, Carrasco RD. Pathogenesis of myeloma. Annu Rev Pathol. 2011;6:249–74.
doi: 10.1146/annurev-pathol-011110-130249
Liu H, Pan Y, Meng S, Zhang W, Zhou F. Current treatment options of T cell-associated immunotherapy in multiple myeloma. Clin Exp Med. 2017;17(4):431–9.
doi: 10.1007/s10238-017-0450-9
Shen X, Guo Y, Yu J, Qi J, Shi W, Wu X, Ni H, Ju S. miRNA-202 in bone marrow stromal cells affects the growth and adhesion of multiple myeloma cells by regulating B cell-activating factor. Clin Exp Med. 2016;16(3):307–16.
doi: 10.1007/s10238-015-0355-4
Dong H, Zhu G, Tamada K, Chen L. B7-H1, a third member of the B7 family, co-stimulates T-cell proliferation and interleukin-10 secretion. Nat Med. 1999;5(12):1365–9.
doi: 10.1038/70932
Freeman GJ, Long AJ, Iwai Y, et al. Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation. J Exp Med. 2000;192(7):1027–34.
doi: 10.1084/jem.192.7.1027
Braga WM, da Silva BR, de Carvalho AC, et al. FOXP3 and CTLA4 overexpression in multiple myeloma bone marrow as a sign of accumulation of CD4(+) T regulatory cells. Cancer Immunol Immunother. 2014;63(11):1189–97.
doi: 10.1007/s00262-014-1589-9
Tamura H, Ishibashi M, Yamashita T, et al. Marrow stromal cells induce B7-H1 expression on myeloma cells, generating aggressive characteristics in multiple myeloma. Leukemia. 2013;27(2):464–72.
doi: 10.1038/leu.2012.213
Lesokhin AM, Ansell SM, Armand P, et al. Nivolumab in patients with relapsed or refractory hematologic malignancy: preliminary results of a phase Ib study. J Clin Oncol. 2016;34(23):2698–704.
doi: 10.1200/JCO.2015.65.9789
Mojtahedi Z, Mohmedi M, Rahimifar S, Erfani N, Hosseini SV, Ghaderi A. Programmed death-1 gene polymorphism (PD-1.5 C/T) is associated with colon cancer. Gene. 2012;508(2):229–32.
doi: 10.1016/j.gene.2012.07.059
Tang W, Wang Y, Jiang H, et al. Programmed death-1 (PD-1) rs2227981 C>T polymorphism is associated with cancer susceptibility: a meta-analysis. Int J Clin Exp Med. 2015;8(12):22278–85.
pubmed: 26885204
pmcid: 4729990
Lee SY, Jung DK, Choi JE, et al. Functional polymorphisms in PD-L1 gene are associated with the prognosis of patients with early stage non-small cell lung cancer. Gene. 2017;599:28–35.
doi: 10.1016/j.gene.2016.11.007
Tang W, Qiu H, Jiang H, et al. Lack of association between cytotoxic T-lymphocyte antigen 4 (CTLA-4)-1722T/C (rs733618) polymorphism and cancer risk: from a case-control study to a meta-analysis. PLoS ONE. 2014;9(4):e94039.
doi: 10.1371/journal.pone.0094039
Anjos S, Nguyen A, Ounissi-Benkalha H, Tessier MC, Polychronakos C. A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem. 2002;277(48):46478–86.
doi: 10.1074/jbc.M206894200
Ishizaki Y, Yukaya N, Kusuhara K, et al. PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis. Hum Genet. 2010;127(4):411–9.
doi: 10.1007/s00439-009-0781-z
Zheng L, Li D, Wang F, et al. Association between hepatitis B viral burden in chronic infection and a functional single nucleotide polymorphism of the PDCD1 gene. J Clin Immunol. 2010;30(6):855–60.
doi: 10.1007/s10875-010-9450-1
Perez-Garcia A, Osca G, Bosch-Vizcaya A, et al. Kinetics of the CTLA-4 isoforms expression after T-lymphocyte activation and role of the promoter polymorphisms on CTLA-4 gene transcription. Hum Immunol. 2013;74(9):1219–24.
doi: 10.1016/j.humimm.2013.05.012
Wang W, Li F, Mao Y, et al. A miR-570 binding site polymorphism in the B7-H1 gene is associated with the risk of gastric adenocarcinoma. Hum Genet. 2013;132(6):641–8.
doi: 10.1007/s00439-013-1275-6
Lee SY, Jung DK, Choi JE, et al. PD-L1 polymorphism can predict clinical outcomes of non-small cell lung cancer patients treated with first-line paclitaxel–cisplatin chemotherapy. Sci Rep. 2016;6:25952.
doi: 10.1038/srep25952
Rosenblatt J, Glotzbecker B, Mills H, et al. PD-1 blockade by CT-011, anti-PD-1 antibody, enhances ex vivo T-cell responses to autologous dendritic cell/myeloma fusion vaccine. J Immunother. 2011;34(5):409–18.
doi: 10.1097/CJI.0b013e31821ca6ce
Benson DM Jr, Bakan CE, Mishra A, et al. The PD-1/PD-L1 axis modulates the natural killer cell versus multiple myeloma effect: a therapeutic target for CT-011, a novel monoclonal anti-PD-1 antibody. Blood. 2010;116(13):2286–94.
doi: 10.1182/blood-2010-02-271874
Ishibashi M, Tamura H, Sunakawa M, et al. Myeloma drug resistance induced by binding of myeloma B7-H1 (PD-L1) to PD-1. Cancer Immunol Res. 2016;4(9):779–88.
doi: 10.1158/2326-6066.CIR-15-0296
Karabon L, Pawlak-Adamska E, Tomkiewicz A, et al. Variations in suppressor molecule ctla-4 gene are related to susceptibility to multiple myeloma in a polish population. Pathol Oncol Res. 2012;18(2):219–26.
doi: 10.1007/s12253-011-9431-6
Lee MY, Park CJ, Cho YU, et al. Immune checkpoint (PD-1, PD-L1, PD-L2, and CTLA-4) expression in plasma cell myeloma. Blood. 2017;130:4400.
Yamashita T, Tamura H, Satoh C, et al. Functional B7.2 and B7-H2 molecules on myeloma cells are associated with a growth advantage. Clin Cancer Res. 2009;15(3):770–7.
doi: 10.1158/1078-0432.CCR-08-0501
Nagahama K, Aoki K, Nonaka K, et al. The deficiency of immunoregulatory receptor PD-1 causes mild osteopetrosis. Bone. 2004;35(5):1059–68.
doi: 10.1016/j.bone.2004.06.018
Dhodapkar MV, Sexton R, Das R, et al. Prospective analysis of antigen-specific immunity, stem-cell antigens, and immune checkpoints in monoclonal gammopathy. Blood. 2015;126(22):2475–8.
doi: 10.1182/blood-2015-03-632919
Wang L, Wang H, Chen H, et al. Serum levels of soluble programmed death ligand 1 predict treatment response and progression free survival in multiple myeloma. Oncotarget. 2015;6(38):41228–36.
pubmed: 26515600
pmcid: 4747402
Huang SY, Lin HH, Lin CW, et al. Soluble PD-L1: a biomarker to predict progression of autologous transplantation in patients with multiple myeloma. Oncotarget. 2016;7(38):62490–502.
pubmed: 27566569
pmcid: 5308741
Qin XY, Lu J, Li GX, et al. CTLA-4 polymorphisms are associated with treatment outcomes of patients with multiple myeloma receiving bortezomib-based regimens. Ann Hematol. 2018;97(3):485–95.
doi: 10.1007/s00277-017-3203-7
Gorgun G, Samur MK, Cowens KB, et al. Lenalidomide enhances immune checkpoint blockade-induced immune response in multiple myeloma. Clin Cancer Res. 2015;21(20):4607–18.
doi: 10.1158/1078-0432.CCR-15-0200
Luptakova K, Rosenblatt J, Glotzbecker B, et al. Lenalidomide enhances anti-myeloma cellular immunity. Cancer Immunol Immunother. 2013;62(1):39–49.
doi: 10.1007/s00262-012-1308-3
Driscoll J, Aslam I, Malek E. Eosinophils upregulate PD-L1 and PD-L2 expression to enhance the immunosuppressive microenvironment in multiple myeloma. Blood. 2017;130:4417.
Gibson HM, Mishra A, Chan DV, Hake TS, Porcu P, Wong HK. Impaired proteasome function activates GATA3 in T cells and upregulates CTLA-4: relevance for Sezary syndrome. J Invest Dermatol. 2013;133(1):249–57.
doi: 10.1038/jid.2012.265