Transcriptome analysis defines myocardium gene signatures in children with ToF and ASD and reveals disease-specific molecular reprogramming in response to surgery with cardiopulmonary bypass

Table 1 Relative expression of selected DEGs in ToF vs ASD specimens

Function	Gene symbol	Gene description	Fold change^a
ToF
Matrix organization and cell adhesion	ELN	Elastin	3.9
	POSTN	Periostin, osteoblast specific factor	3.6
	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif, 5	3.6
	COL1A1	Collagen, type I, alpha 1	3.5
	COL1A2	Collagen, type I, alpha 2	2.8
	ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	2.8
	COL5A1	Collagen, type V, alpha 1	2.7
	VCAN	Versican	2.7
	COL5A2	Collagen, type V, alpha 2	2.6
	MMP16	Matrix metallopeptidase 16 (membrane-inserted)	2.5
	NID1	Nidogen 1	2.3
	COL4A4	Collagen, type IV, alpha 4	2.3
	COL4A1	Collagen, type IV, alpha 1	2.1
	THBS1	Thrombospondin 1	2.1
	LAMA2	Laminin, alpha 2	2.1
Trascription factors	EGR1	Early growth response 1	4.5
	FOS	FBJ murine osteosarcoma viral oncogene homolog	4.0
	HIF3A	Hypoxia inducible factor 3, alpha subunit	2.2
	IER2	Immediate early response 2	2.1
	NFIL3	Nuclear factor, interleukin 3 regulated	2.0
ASD
Muscle development and contraction	ACTA1	Actin, alpha 1, skeletal muscle	9.6
	NEB	Nebulin	7.9
	MYOT	Myotilin	6.4
	MYL3	Myosin, light chain 3, alkali; ventricular, skeletal, slow	5.3
	KLHL41	Kelch-like family member 41	4.8
	MUSTN1	Musculoskeletal, embryonic nuclear protein 1	4.1
	PPP1R3A	Protein phosphatase 1, regulatory subunit 3A	3.9
	ENO3	Enolase 3 (beta, muscle)	3.6
	SYNPO2	Synaptopodin 2	3.4
	MYH11	Myosin, heavy chain 11, smooth muscle	2.0
	MURC	Muscle-related coiled-coil protein	2.0

Comparative analysis of gene expression in ToF and ASD samples was conducted as described in “Methods” section. A function, a gene symbol, a brief gene description, and the fold change values are specified for each gene
Genes for each functional category are ordered according to decreasing fold changes
^aFold change ≥ 2 are considered significant

ISSN: 1479-5876