Table 3
(a) 12 upregulated MeDEGs identified in SSc

HUGO gene : Function in SSc or related pathology and reference

C3AR1Complement C3a Receptor 1: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.Inflammatory response. [23]

CSTAcystatin A: cysteine proteinase inhibitor, encoding Cystatin A, underlies exfoliative ichthyosisProtease inhibitor in cell-cell adhesion in the basal and lower suprabasal layers. [24]

CTSZCathepsin Z, lysosomal cysteine proteinase and member of the peptidase C1 family: susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosisAngiogenesis [25, 26]

CTSGCathepsin G, granule serine proteaseDevelopment of anti-cathepsin G antibodies in sera, function unknown.
Angiogenesis [27]
destruction of the lung matrix and acute inflammation propagation [28].

ELANEElastase, Neutrophil Expressed: mutations implicated in severe Congenital and cyclic neutropeniaDestruction of extracellular matrix [29, 30]

LTBRLymphotoxin Beta Receptor, a member of the tumor necrosis factor receptor superfamilydevelopment of natural killer cells

NFE2Nuclear Factor, Erythroid 2: Component of the NF-E2 complex essential for regulating the beta-globin control regionTranscription factor

ODF3BOuter Dense Fiber Of Sperm Tails 3BInvolved in the pathogenic CD4 T cell in MS

PLAURPlasminogen Activator, Urokinase ReceptorCoagulation/fibrolytic system [31, 32]
Angiogenesis [33, 34]

SAMDC4ASterile Alpha Motif Domain Containing 4A: posttranscriptional regulatorNo report on SSc or related disease

SPI1Spi-1 Proto-Oncogene: transcriptional regulatorTranscription factor

ZYXZyxin: actin regulator in vascular smooth muscleCoagulation [35]
integrity of vasculature [36]

(b) 8 downregulated MeDEGs identified in SSc

HUGO gene : functionbFunction in SSc or related pathology and reference

CXCR6C-X-C Motif Chemokine Receptor 6, receptor for the C-X-C chemokine CXCL16Angiogenesis [37, 38]

F2RCoagulation Factor II Thrombin ReceptorCoagulation/fibrolytic system, fibrosis [3941]

FYNSrc Family Tyrosine KinaseFibrosis [40, 42]

PAG1Phosphoprotein Membrane Anchor With Glycosphingolipid Microdomains 1Proliferation of lymphocytes

PRF1Perforin 1, pore forming protein 1, crucial effector of T and NK cell-mediated cytolysis, highly homologous to complement component C9cytotoxic activity [4345]
vascular damage [46]

PRKCHProtein Kinase C Eta, calcium-insensitive, but activated by diacylglycerol (DAG) and phosphatidylserineAssociated in stroke, but no report in SSc or related diseases

RASSF5Ras Association Domain Family Member 5, Potential tumor suppressor.No report on SSc or related disease

RUNX3Runt Related Transcription Factor 3Transcription factor, induction and suppressive function of Foxp3+ inducible T reg [47]
aHuman Genome Organization nomenclature.
bGene function from GeneCards website.