The -509C/T polymorphism of transforming growth factor-β1 is associated with increased risk for development of chronic idiopathic neutropenia

European Journal of Haematology

Volumn 83, Issue 6, 2009, Pages 535-540

  Eliopoulos, Dimitrios G ^a   Mavroudi, Irene ^b   Pontikoglou, Charalampos ^a   Ximeri, Maria ^a   Stavroulaki, Emily ^a   Pyrovolaki, Katerina ^a   Velegraki, Maria ^a   Spanoudakis, Michael ^a   Goulielmos, George ^b   Papadaki, Helen A ^a  

^a UNIVERSITY HOSPITAL OF HERAKLION   (Greece)

^b UNIVERSITY OF CRETE   (Greece)

Author keywords

Chronic idiopathic neutropenia; Cytokines; Gene polymorphisms; Transforming growth factor 1

Indexed keywords

GENOMIC DNA; GRANULOCYTE ANTIBODY; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; AGED; ARTICLE; BONE MARROW CELL; CELL AGGLUTINATION; CELL ISOLATION; CHRONIC IDIOPATHIC NEUTROPENIA; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENOTYPE; GRANULOCYTE; HEREDITY; HUMAN; IMMUNOFLUORESCENCE; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; NEUTROPENIA; NEUTROPHIL COUNT; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHRONIC DISEASE; FAS LIGAND PROTEIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREECE; HUMANS; MALE; MIDDLE AGED; NEUTROPENIA; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR-ALPHA; UP-REGULATION; YOUNG ADULT;

EID: 70449503310     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2009.01319.x     Document Type: Article

References (31)

1. Dale DC, Guerry D, Wewerka JR, Bull JM, Chusid MJ. Chronic neutropenia. Medicine (Baltimore) 1979 58 : 128 144.
2. Kyle RA. Natural history of chronic idiopathic neutropenia. N Engl J Med 1980 302 : 908 909.
3. Papadaki HA, Palmblad J, Eliopoulos GD. Non-immune chronic idiopathic neutropenia of adult: an overview. Eur J Haematol 2001 67 : 35 44.
4. Papadaki HA, Eliopoulos GD, Coulocheri SA, Spyropoulou M, Stavropoulos-Giokas C. Increased frequency of HLA-DRB1*1302 haplotype in patients with nonimmune chronic idiopathic neutropenia of adults. Blood 2001 97 : 580 581. (Pubitemid 32060351)
5. Pontikoglou C, Liapakis G, Pyrovolaki K, Papadakis M, Bux J, Eliopoulos GD, Papadaki HA. Evidence for downregulation of erythropoietin receptor in bone marrow erythroid cells of patients with chronic idiopathic neutropenia. Exp Hematol 2006 34 : 1312 1322. (Pubitemid 44374831)
6. Psyllaki M, Damianaki A, Gemetzi C, Pyrovolaki K, Eliopoulos GD, Papadaki HA. Impaired megakaryopoiesis in patients with chronic idiopathic neutropenia is associated with increased transforming growth factor beta1 production in the bone marrow. Br J Haematol 2006 134 : 624 631. (Pubitemid 44253606)
7. Palmblad J, Papadaki HA. Chronic idiopathic neutropenias and severe congenital neutropenia. Curr Opin Hematol 2008 15 : 8 14.
8. Auner HW, Klintschar M, Crevenna R, Beham-Schmid C, Hoefler G, Mitterbauer G, Linkesch W, Sill H. Two case studies of chronic idiopathic neutropenia preceding acute myeloid leukaemia. Br J Haematol 1999 105 : 431 433.
9. Person RE, Li FQ, Duan Z, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003 34 : 308 312.
10. Papadaki HA, Horwitz M, Coulocheri SA, Person RA, Benson KF, Eliopoulos GD. Low levels of serum elastase are not associated with mutations in ELA-2 elastase encoding gene in chronic idiopathic neutropenia. Blood 2003 101 : 2898 2899.
11. Papadaki HA, Eliopoulos AG, Kosteas T, Gemetzi C, Damianaki A, Koutala H, Bux J, Eliopoulos GD. Impaired granulocytopoiesis in patients with chronic idiopathic neutropenia is associated with increased apoptosis of bone marrow myeloid progenitor cells. Blood 2003 101 : 2591 2600. (Pubitemid 36857618)
12. Papadaki HA, Giouremou K, Eliopoulos GD. Low frequency of myeloid progenitor cells in chronic idiopathic neutropenia of adults may be related to increased production of TGF-beta1 by bone marrow stromal cells. Eur J Haematol 1999 63 : 154 162.
13. Papadaki HA, Stamatopoulos K, Damianaki A, Gemetzi C, Anagnostopoulos A, Papadaki T, Eliopoulos AG, Eliopoulos GD. Activated T-lymphocytes with myelosuppressive properties in patients with chronic idiopathic neutropenia. Br J Haematol 2005 128 : 863 876.
14. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci U S A 1997 94 : 3195 3199.
15. Warzocha K, Ribeiro P, Bienvenu J, Roy P, Charlot C, Rigal D, Coiffier B, Salles G. Genetic polymorphisms in the tumor necrosis factor locus influence non-Hodgkin's lymphoma outcome. Blood 1998 91 : 3574 3581.
16. Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD. Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet 1999 8 : 93 7.
17. Luedecking EK, DeKosky ST, Mehdi H, Ganguli M, Kamboh MI. Analysis of genetic polymorphisms in the transforming growth factor-beta1 gene and the risk of Alzheimer's disease. Hum Genet 2000 106 : 565 569.
18. Dunning AM, Ellis PD, McBride S, et al. A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer. Cancer Res 2003 63 : 2610 2615.
19. Sugiura Y, Niimi T, Sato S, Yoshinouchi T, Banno S, Naniwa T, Maeda H, Shimizu S, Ueda R. Transforming growth factor beta1 gene polymorphism in rheumatoid arthritis. Ann Rheum Dis 2002 61 : 826 828. (Pubitemid 34899075)
20. Pulleyn LJ, Newton R, Adcock IM, Barnes PJ. TGFbeta1 allele association with asthma severity. Hum Genet 2001 109 : 623 627.
21. Cambien F, Ricard S, Troesch A, Mallet C, Generenaz L, Evans A, Arveiler D, Luc G, Ruidavets JB, Poirier O. Polymorphisms of the transforming growth factor-beta 1 gene in relation to myocardial infarction and blood pressure. The Etude Cas-Temoin de l'Infarctus du Myocarde (ECTIM) Study. Hypertension 1996 28 : 881 887.
22. Wu J, Metz C, Xu X, Abe R, Gibson AW, Edberg JC, Cooke J, Xie F, Cooper GS, Kimberly RP. A novel polymorphic CAAT/enhancer-binding protein beta element in the FasL gene promoter alters Fas ligand expression: a candidate background gene in African American systemic lupus erythematosus patients. J Immunol 2003 170 : 132 138.
23. Cabrera M, Shaw MA, Sharples C, Williams H, Castes M, Convit J, Blackwell JM. Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. J Exp Med 1995 182 : 1259 1264.
24. Shu XO, Gao YT, Cai Q, Pierce L, Cai H, Ruan ZX, Yang G, Jin F, Zheng W. Genetic polymorphisms in the TGF-beta 1 gene and breast cancer survival: a report from the Shanghai Breast Cancer Study. Cancer Res 2004 64 : 836 839. (Pubitemid 38176881)
25. Su ZG, Wen FQ, Feng YL, Xiao M, Wu XL. Transforming growth factor-beta1 gene polymorphisms associated with chronic obstructive pulmonary disease in Chinese population. Acta Pharmacol Sin 2005 26 : 714 720.
26. Sun T, Miao X, Zhang X, Tan W, Xiong P, Lin D. Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma. J Natl Cancer Inst 2004 96 : 1030 1036.
27. Papadaki HA, Palmblad J, Kapsimali V, Anagnou NP, Eliopoulos GD. Increased serum IgA and decreased IgG3 strongly correlate with increased serum TGF-beta1 levels in patients with nonimmune chronic idiopathic neutropenia of adults. Eur J Haematol 2000 65 : 237 244.
28. Papadaki HA, Coulocheri S, Eliopoulos GD. Patients with chronic idiopathic neutropenia of adults have increased serum concentrations of inflammatory cytokines and chemokines. Am J Hematol 2000 65 : 271 277.
29. Pyrovolaki K, Mavroudi I, Papadantonakis N, Velegraki M, Ximeri M, Kalpadakis C, Gvazava G, Klaus M, Eliopoulos GD, Papadaki HA. Transforming growth factor-beta1 affects interleukin-10 production in the bone marrow of patients with chronic idiopathic neutropenia. Eur J Haematol 2007 79 : 531 538.
30. Gidvani V, Ramkissoon S, Sloand EM, Young NS. Cytokine gene polymorphisms in acquired bone marrow failure. Am J Hematol 2007 82 : 721 724.
31. Addas-Carvalho M, de Paula EV, Lima CS, Saad ST. Polymorphisms of interleukin-1 gene complex, IL6 and tumour necrosis factor genes in chronic idiopathic neutropenia of adults. Ann Hematol 2005 84 : 709 714.