Differential Expression of Inflammation-Related Genes in Children with Down Syndrome.
OBJECTIVE
The aim of the study was to investigate the expression patterns of a specific set of genes involved in the inflammation process in children with Down Syndrome (DS) and children without the syndrome (control group) to identify differences that may be related to the immune abnormalities observed in DS individuals.


METHODS
RNA samples were obtained from peripheral blood, and gene expression was quantified using the TaqMan® Array Plate Human Inflammation Kit, which facilitated the investigation into 92 inflammation-related genes and four reference genes using real-time polymerase chain reaction (qPCR).


RESULTS
Twenty genes showed differential expression in children with DS; 12 were overexpressed (PLA2G2D, CACNA1D, ALOX12, VCAM1, ICAM1, PLCD1, ADRB1, HTR3A, PDE4C, CASP1, PLA2G5, and PLCB4), and eight were underexpressed (LTA4H, BDKRB1, ADRB2, CD40LG, ITGAM, TNFRSF1B, ITGB1, and TBXAS1). After statistically correcting for the false discovery rate, only the genes BDKRB1 and LTA4H showed differential expression, and both were underexpressed within the DS group.


CONCLUSIONS
DS children showed differential expression of inflammation-related genes that were not located on chromosome 21 compared with children without DS. The BDKRB1 and LTA4H genes may differentiate the case and control groups based on the inflammatory response, which plays an important role in DS pathogenesis.
Unit of Research in Genetics and Molecular Biology (UPGEM), Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), 15090-000 São José do Rio Preto, SP, Brazil.
Cláudia Regina Santos
CR
Silva
Unit of Research in Genetics and Molecular Biology (UPGEM), Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), 15090-000 São José do Rio Preto, SP, Brazil.
Joice Matos
JM
Biselli-Périco
Unit of Research in Genetics and Molecular Biology (UPGEM), Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), 15090-000 São José do Rio Preto, SP, Brazil.
Bruna Lancia
BL
Zampieri
Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil; Center for Medical Genomics at HCFMRP/USP, Ribeirão Preto, SP, Brazil; Regional Blood of Ribeirão Preto at HCFMRP/USP, Ribeirão Preto, SP, Brazil.
Wilson Araujo
WA
Silva
Institute of Bioinformatics and Biotechnology (2bio), Ribeirão Preto, SP, Brazil; Metrópole Digital Institute (IMD), UFRN, Natal, RN, Brazil.
Jorge Estefano Santana
JE
de Souza
Institute of Bioinformatics and Biotechnology (2bio), Ribeirão Preto, SP, Brazil.
Matheus Carvalho
MC
Bürger
Unit of Research in Genetics and Molecular Biology (UPGEM), Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), 15090-000 São José do Rio Preto, SP, Brazil.
Eny Maria
EM
Goloni-Bertollo
Unit of Research in Genetics and Molecular Biology (UPGEM), Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), 15090-000 São José do Rio Preto, SP, Brazil.
Érika Cristina
ÉC
Pavarino
D048868:Adaptor Proteins, Signal Transducing; D039481:CD11b Antigen / Q000235:genetics; D020746:Calcium Channels, L-Type / Q000235:genetics; D020170:Caspase 1 / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4 / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics* / Q000276:immunology; D005260:Female; D020869:Gene Expression Profiling; D054501:Group II Phospholipases A2 / Q000235:genetics; D054505:Group V Phospholipases A2 / Q000235:genetics; D006801:Humans; D007249:Inflammation / Q000235:genetics* / Q000276:immunology; D018799:Intercellular Adhesion Molecule-1 / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D054799:Phospholipase C beta / Q000235:genetics; D054803:Phospholipase C delta / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D018342:Receptors, Adrenergic, beta-1 / Q000235:genetics; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics; D044406:Receptors, Serotonin, 5-HT3 / Q000235:genetics; D047889:Receptors, Tumor Necrosis Factor, Type II / Q000235:genetics; D011993:Recombinant Fusion Proteins / Q000235:genetics; D019010:Vascular Cell Adhesion Molecule-1 / Q000235:genetics
C547787:ADRB1 protein, human; C553443:ADRB2 protein, human; D048868:Adaptor Proteins, Signal Transducing; C472073:CACNA1D protein, human; D039481:CD11b Antigen; C499839:CD40Ig protein, recombinant; D020746:Calcium Channels, L-Type; C509409:HTR3A protein, human; C573420:ICAM1 protein, human; C509295:ITGAM protein, human; C108257:ITGB1BP1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D018342:Receptors, Adrenergic, beta-1; D018343:Receptors, Adrenergic, beta-2; D044406:Receptors, Serotonin, 5-HT3; D047889:Receptors, Tumor Necrosis Factor, Type II; D011993:Recombinant Fusion Proteins; C415902:TNFRSF1B protein, human; D019010:Vascular Cell Adhesion Molecule-1; D018799:Intercellular Adhesion Molecule-1; D054501:Group II Phospholipases A2; D054505:Group V Phospholipases A2; C516293:PLA2G2D protein, human; C516299:PLA2G5 protein, human; C518042:PLCB4 protein, human; C518024:PLCD1 protein, human; D054799:Phospholipase C beta; D054803:Phospholipase C delta; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4; C517361:PDE4C protein, human; D020170:Caspase 1