Altered expression of immune-related genes in children with Down syndrome

PLoS ONE

Volumn 9, Issue 9, 2014, Pages

  Zampieri, Bruna Lancia ^a   Biselli Périco, Joice Matos ^a   De Souza, Jorge Estefano Santana ^b,c,d   Bürger, Matheus Carvalho ^b,c,d   Silva, Wilson Araújo ^b,d   Goloni Bertollo, Eny Maria ^a   Pavarino, Érika Cristina ^a  

^a FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c Institute of Bioinformatics and Biotechnology   (Brazil)

^d National Institute of Science and Technology in Stem Cell and Cell Therapy   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

B7 ANTIGEN; CD19 ANTIGEN; CD28 ANTIGEN; CD40 ANTIGEN; CD40 LIGAND; CHEMOKINE RECEPTOR CCR2; CHEMOKINE RECEPTOR CCR5; CHEMOKINE RECEPTOR CCR7; ENDOTHELIN 1; I KAPPA B KINASE INHIBITOR; INDUCIBLE NITRIC OXIDE SYNTHASE; INTERLEUKIN 10; INTERLEUKIN 6; MACROPHAGE INFLAMMATORY PROTEIN 1ALPHA; PROTEIN BCL 2; TRANSCRIPTOME;

ARTICLE; BCL2 GENE; BCL2L1 GENE; CCL3 GENE; CCR2 GENE; CCR5 GENE; CCR7 GENE; CD19 GENE; CD28 GENE; CD40 GENE; CD40LG GENE; CD80 GENE; CHILD; CHROMOSOME 21; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DOWN REGULATION; DOWN SYNDROME; EDN1 GENE; FEMALE; GENE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE LOCATION; GENETIC ASSOCIATION; HSA21 GENE; HUMAN; HUMAN CELL; IKBKB GENE; IL10 GENE; IL6 GENE; IMMUNE RELATED GENE; IMMUNOPATHOGENESIS; KARYOTYPING; LYMPHOCYTE COUNT; MALE; MOLECULAR DYNAMICS; NOS2 GENE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; SKI GENE; UPREGULATION; GENETICS; IMMUNOLOGY; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HUMANS; MALE; TRANSCRIPTOME;

EID: 84907272758     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0107218     Document Type: Article

References (52)

1. Chistiakov D (2007) Down syndrome and coexistent autoimmune diseases. J Appl Biomed 5: 71-76.
2. Xavier AC, Ge Y, Taub J (2010) Unique clinical and biological features of leukemia in Down syndrome children. Expert Rev Hematol 3: 175-186.
3. Ram G, Chinen J (2011) Infections and immunodeficiency in Down syndrome Clin Exp Immunol 164: 9-16.
4. Broers CJ, Gemke RJ, Weijerman ME, Kuik DJ, van Hoogstraten IM, et al. (2012) Frequency of lower respiratory tract infections in relation to adaptive immunity in children with Down syndrome compared to their healthy siblings. Acta Paediatr 101: 862-867.
5. Englund A, Jonsson B, Zander CS, Gustafsson J, Annerén G (2013) Changes in mortality and causes of death in the Swedish Down syndrome population. Am J Med Genet A 161: 642-649.
6. Fitzgerald P, Leonard H, Pikora TJ, Bourke J, Hammond G (2013) Hospital admissions in children with down syndrome: experience of a population-based cohort followed from birth. PLoS One 8: e70401.
7. Malagó W Jr, Sommer CA, Del Cistia Andrade C, Soares-Costa A, Abrao Possik P, et al. (2005) Gene expression profile of human Down syndrome leukocytes. Croat Med J 46: 647-656.
8. Lockstone HE1, Harris LW, Swatton JE, Wayland MT, Holland AJ, et al. (2007) Gene expression profiling in the adult Down syndrome brain. Genomics 90: 647-660.
9. Li C, Jin L, Bai Y, Chen Q, Fu L, et al. (2012) Genome-wide expression analysis in Down syndrome: insight into immunodeficiency. PLoS One 7: e49130.
10. Granese B, Scala I, Spatuzza C, Valentino A, Coletta M, et al. (2013) Validation of microarray data in human lymphoblasts shows a role of the ubiquitinproteasome system and NF-kB in the pathogenesis of Down syndrome. BMC Med Genomics 6: 24.
11. Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, et al. (2014) Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature 508: 345-350.
12. Burczynski ME, Dorner AJ (2006) Transcriptional profiling of peripheral blood cells in clinical pharmacogenomic studies. Pharmacogenomics 7: 187-202.
13. Mohr S, Liew CC (2007) The peripheral-blood transcriptome: new insights into disease and risk assessment. Trends Mol Med 13: 422-432.
14. Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2 (-Delta Delta C(T)) Method. Methods 25: 402-408.
15. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, et al. (2002) Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3: RESEARCH0034.
16. R Core Team (2013) R: A language and environment for statistical computing R Foundation for Statistical Computing, Vienna, Austria. Available from: http://wwwR-projectorg/
17. Gentleman RC, Carey VJ, Bates DM, Bolstad B, Dettling M, et al. (2004) Bioconductor: open software development for computational biology and bioinformatics. Genome Biol 5: R80.
18. Dvinge H, Bertone P (2009) HTqPCR: high-throughput analysis and visualization of quantitative real-time PCR data in R. Bioinformatics 25: 3325-3326.
19. Smyth GK (2004) Linear models and empirical bayes methods for assessing differential expression in microarray experiments. Stat Appl Genet Mol Biol 3: Article3.
20. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: A practical and powerful approach to multiple testing. J R Stat Soc Series B Stat Methodol 57: 289-300.
21. Cossarizza A, Monti D, Montagnani G, Ortolani C, Masi M, et al. (1990) Precocious aging of the immune system in Down syndrome: alteration of B lymphocytes, T-lymphocyte subsets, and cells with natural killer markers. Am J Med Genet Suppl 7: 213-218.
22. de Hingh YC, van der Vossen PW, Gemen EF, Mulder AB, Hop WC, et al. (2005) Intrinsic abnormalities of lymphocyte counts in children with down syndrome. J Pediatr 147: 744-747.
23. Cocchi G, Mastrocola M, Capelli M, Bastelli A, Vitali F, et al. (2007) Immunological patterns in young children with Down syndrome: is there a temporal trend? Acta Paediatr 96: 1479-1482.
24. Elsayed SM, Elsayed GM (2009) Phenotype of apoptotic lymphocytes in children with Down syndrome. Immun Ageing 6: 2.
25. Kusters MA, Jol-van der Zijde CM, van Tol MJ, Bolz WE, Bok LA, et al. (2011) Impaired avidity maturation after tetanus toxoid booster in children with Down syndrome. Pediatr Infect Dis J 30: 357-359.
26. Kusters MA, Verstegen RH, Gemen EF, de Vries E (2009) Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol 156: 189-193.
27. Nakayama K, Nakayama K, Negishi I, Kuida K, Sawa H, et al. (1994) Targeted disruption of Bcl-2 alpha beta in mice: occurrence of gray hair, polycystic kidney disease, and lymphocytopenia. Proc Natl Acad Sci U S A 91: 3700-3704.
28. Bhattacharya D, Cheah MT, Franco CB, Hosen N, Pin CL, et al. (2007) Transcriptional profiling of antigen-dependent murine B cell differentiation and memory formation. J Immunol 179: 6808-6819.
29. Guazzarotti L, Trabattoni D, Castelletti E, Boldrighini B, Piacentini L, et al. (2009) T lymphocyte maturation is impaired in healthy young individuals carrying trisomy 21 (Down syndrome). Am J Intellect Dev Disabil 114: 100-109.
30. O'Garra A, Barrat FJ, Castro AG, Vicari A, Hawrylowicz C (2008) Strategies for use of IL-10 or its antagonists in human disease. Immunol Rev 223: 114-131.
31. Dace DS, Khan AA, Stark JL, Kelly J, Cross AH, et al. (2009) Interleukin-10 overexpression promotes Fas-ligand-dependent chronic macrophage-mediated demyelinating polyneuropathy. PLoS One 4: e7121.
32. Zizka Z, Calda P, Fait T, Haakova L, Kvasnicka J, et al. (2006) Prenatally diagnosable differences in the cellular immunity of fetuses with Down's and Edwards' syndrome. Fetal Diagn Ther 21:510-514
33. Yilmaz C, Dogan M, Basarslan F, Yilmaz N, Yuca S, et al. (2013) Evaluation of Lymphocyte Subgroups in Children With Down Syndrome. Clin Appl Thromb Hemost. doi: 101177/1076029613511521
34. Mutch DM, Berger A, Mansourian R, Rytz A, Roberts MA (2002) The limit fold change model: a practical approach for selecting differentially expressed genes from microarray data. BMC Bioinformatics 3: 17.
35. Ma A, Pena JC, Chang B, Margosian E, Davidson L, et al. (1995) Bclx regulates the survival of double-positive thymocytes. Proc Natl Acad Sci U S A 92: 4763-4767.
36. Maurer M, von Stebut E (2004) Macrophage inflammatory protein-1. Int J Biochem Cell Biol 36: 1882-1886.
37. Charo IF, Peters W (2003) Charo IF, Peters W (2003) Chemokine receptor 2 (CCR2) in atherosclerosis, infectious diseases, and regulation of T-cell polarization. Microcirculation 10: 259-264.
38. Oppermann M (2004) Chemokine receptor CCR5: insights into structure, function, and regulation. Cell Signal 16: 1201-1210.
39. Forster R, Davalos-Misslitz AC, Rot A (2008) CCR7 and its ligands: balancing immunity and tolerance. Nat Rev Immunol 8: 362-871.
40. Tedder TF, Inaoki M, Sato S (1997) The CD19/21 complex regulates signal transduction thresholds governing humoral immunity and autoimmunity. Immunity 6: 107-118.
41. Salomon B, Lenschow DJ, Rhee L, Ashourian N, Singh B, et al. (2000) B7/CD28 costimulation is essential for the homeostasis of the CD4+CD25+ immunoregulatory T cells that control autoimmune diabetes. Immunity 12: 431-440.
42. Bour-Jordan H, Blueston JA (2002) CD28 function: a balance of costimulatory and regulatory signals. J Clin Immunol 22: 1-7.
43. Suttles J, Stout RD (2009) Macrophage CD40 signaling: a pivotal regulator of disease protection and pathogenesis. Semin Immunol 21: 257-264.
44. Gimmi CD, Freeman GJ, Gribben JG, Sugita K, Freedman AS, et al. (1991) B-cell surface antigen B7 provides a costimulatory signal that induces T cells to proliferate and secrete interleukin 2. Proc Natl Acad Sci U S A 88: 6575-6579.
45. Ruetten H, Thiemermann C (1997) Endothelin-1 stimulates the biosynthesis of tumour necrosis factor in macrophages: ET-receptors, signal transduction and inhibition by dexamethasone. J Physiol Pharmacol 48: 675-688.
46. Hofman FM, Chen P, Jeyaseelan R, Incardona F, Fisher M, et al. (1998) Endothelin-1 induces production of the neutrophil chemotactic factor interleukin-8 by human brain-derived endothelial cells. Blood 92: 3064-3072.
47. Browatzki M, Schmidt J, Kübler W, Kranzhöfer R (2000) Endothelin-1 induces interleukin-6 release via activation of the transcription factor NF-kappaB in human vascular smooth muscle cells. Basic Res Cardiol 95: 98-105.
48. Li Q, Verma IM (2002) NF-kappaB regulation in the immune system. Nat Rev Immunol 2: 725-734.
49. Mihara M, Hashizume M, Yoshida H, Suzuki M, Shiina M (2012) IL-6/IL-6 receptor system and its role in physiological and pathological conditions. Clin Sci (Lond) 122: 143-159.
50. Moore KW, de Waal Malefyt R, Coffman RL, O'Garra A (2001) Interleukin-10 and the interleukin-10 receptor. Annu Rev Immunol 19: 683-765.
51. Bogdan C (2001) Nitric oxide and the immune response. Nat Immunol 2: 907-916.
52. Li MO, Wan YY, Sanjabi S, Robertson AK, Flavell RA (2006) Transforming growth factor-beta regulation of immune responses. Annu Rev Immunol 24: 99-146.