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Table 2 Microarray results

From: Disease-modifying factors in hereditary angioedema: an RNA expression-based screening

Family DR

Genes upregulated IH the symptomatic palielit DRO

 

Gene

FC

Adjpvalue

Description

Type I Interferon signaling pathway and /or Response to virus

p value:7.3 × 10 -7

FDR: 1.2 × 10 -4

ISG15

11.87

0.0012

ISG15 ubiquitin-likemodifier(ISG15). [NM_005101]

HERC5

11.63

0.0094

hect domain and RID 5 (HERC5). [NM_U 16323]

OAS3

11.00

0,0094

2’-5’-oligoadenylate synthetase 3, l00kDa (OAS3) [NM_006187]

IFI44

10.70

0,0318

interferon-induced protein 44 (IFI44). [NM_006417]

1F1141.

17.03

0.0267

interferon-induced protein 44-like (IFI44L), mRNA [NM_006820]

MXI

9.25

0,0241

myxovirus resistance 1 (MX1), [NM_002462]

1F16

8.57

U.U1M

Interferon, alpha-inducible protein 6 (IFI6) variant 3 [NM_022873]

IFIT3

861

00588

interfernn-indnced protein with tetratricnpeptide repeals 3 (IFIT3). [NM_00 1549]

IFIT2

7.26

0,0096

interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), [NM_00 1547]

OASL

7.21

0,0485

2’-5’-oligoadenylate synthetase-like (OA.SL), variant 1, [NM 0037331]

USP18

6.23

0,0080

ubquitin specific peptidase 18 (USP18), varient 1, [NM_017414]

OAS2

5.89

0, 050

2’-5’-oligoadenylate synthetase 2 69/71/kDA (OAS2), variant 3, [NM_001032731]

XAF1

4.96

0,0116

XIAP associated factor 1 (XAF1), variant 1, [NM 017523]

RSAD2

29.85

0,0128

radical S-alenosyl methionine domain containing 2 (RSAD2 [NM_0S0657]

IFIT1

20.25

0,0241

interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), [NM 001548]

IFIT35

2.71

0.050

interferon-induced protein 35 (IF135) [NM 005533]

Endoplasmic reticulum unfolded protein response

pvalue :3.8 × 10 -2

FDR: 4 × 10 -2

HSP90AB1

7.84

1,35E-06

heat shock protein 9OkDa alpha, class B member 1 (HSP9OAB 1) [NM 007355]

DERL3

9.92

0,0116

Derl-lilce domain family, member 3 (DERL3), variant 3, rnRNA [NM_198440]

Nucleic acid binding and/or Response to virus

pvalue: 2.0 × 10 -4

FDR1.5 × 10 -2

RIG-1

3.68

0,0496

retinoic acid inducible gene I (RIG-I) [NM_014314]

DHX58

3.23

2,44E-05

DEXH (ASp-Glu-X-His) box polypeptide 58 (DHX58),[NM_024119]

ZBP1

3.36

0,0012

Z-DNA binding protein 1 (ZBP1), variant 1, [NM 030776]

EIF2AK2

4.79

0,0 182

eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), [NM_002759]

PARP12

2.50

0,050

poly (ADP-ribose Polyrnerace family. member 12 (PARP12). [NM_022750]

Other

CMPK2

14.02

0,0036

cytidine monophosphate kinace 2. mitochondrial (CMPK2L [NM_207315]

LAMP3

8.28

0,0128

lysosornal-acsociated membrane protem 3 (LAMP3), [NM_0 14398]

SPATS2T

5.77

0,0080

spermatogenisis associated serine-rich 2-like (SPAT2L) [NM_001100422]

USP4I

4.53

0,0182

partial mRNA for ubiquitin-specific protease 41 (USP41 gene). [AJ586979]

PROM2

5.73

0,0406

prominin 2 (PROM2) variant 3, [NM_144707]

DNHD1

5.58

0,0241

dynein heavy chain domain 1 (DNHD1), variant 2, [NM 173589]

L0C64494

5.09

0,0249

cDNA FLJ455O9 fis, clone BRTHA2020811. [AK127417]

IFIT5

4.86

0.0 128

interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), [NM0 12420]

LY6E

4.44

0,0101

lymphocyte antigen 6 complex. locus E çLY6E), variant I, [NM U02.s4b]

INPP5F

3.48

0,0122

inosito1po1yphnphale-S-phnsphalaceF(fNPPSF) variant 1 [N1\it 014917]

TTC21A

3.14

0,0462

tetratricopeptide repeat domain 21A (TTC21A), variant 2, [NM 145755]

FGD2

2.71

0,0560

FYVE, RhoGEF and PH domain containing 2 (FDG2) [NM_173558]

Family Q

   

Genes upregulated in asymptomatic versus severely affected individuals

Biological process

Gene

FC

Adjpvalue

Description

 

SMAD5

5.35

0.0140

SMAD family member 5 (NM_001001419)

KLF15

3.58

0.0142

Kruppel-like factor 15 (006814)

ATXN7

10.26

0.0144

ataxin 7 (NM_001128149)

UTF1

4.59

0.0158

undifferentiated embronic cell transcription factor (NM_003577)

ALX4

4.00

0.0179

ALX homeobox 4 (ENST00000329255)

MAFA

3.65

0.0182

v-maf musculoaponeuroticfibrosarcoma oncogene homolog A(NM_201589)

RARA

17.22

0.0219

retinoic acid receptor, alpha (NM_001024809)

Tead1

5.20

0.0220

TEA domain family member 1(NM_021961)

NEUROG3

5.51

0.0237

neurogenin 3 (NM_020999)

DYRK1B

4.48

0.239

dual-specificity tyrosine -(Y) phosporylation regulated kinese 1B (NM_004714)

EIE5AL1

23.96

0.2399

eukaryotic translation initiation factor 5A (NM_001099692)

Transcription activator activity

pvalue : 5.7 × 10- 4

FDR: 7.1 × 10 -2

MYOG

16.54

0.0239

myogenin (mygenic factor 4 ) (NM_002479)

GLI2

6.86

0.0258

GLI family zinc finger 28 (NM_005270)

TFE3

3.48

0.0272

transcription factor binding to IGHM enhancer 3(NM00651)

EVXI

7.82

0.0273

even-skipped homebox 1 (NM_005163)

FOXC1

4.44

0.0291

forkhead box C1 (NM_001989)

HRH1

2.91

0.0303

histamine receptor H1 (NM_001098213)

AKT1

4.76

0.0303

v-akt murine thymoma viral oncogene homolog 1(NM_005163)

CTRC1

7.89

0.3311

CREB regulated transcription coactivator 1 (NM_001098482)

CARD11

7.10

0.0318

caspase recruitement domain family, member 11 (AK097139)

CD80

3.53

0.0335

CD80 molecule RG Homo sapiens (NM_001042454)

IL17F

4.13

0.0351

interleukin 17F (NM_021784)

RARG

7.08

0.369

retinoic acid receptor, gamma (NM_000966)

TGTBI111

4.38

0.0369

transforming growth factor beta

FOXA2

2.89

0.0411

forkhead box A2 (NM_021784)

BHLHE23

5.27

0.0420

basic helix-loop-helix- family, member e23 (NM_080606)

Structural molecule activity

pvalue: n.s.

FDR: n.s.

SPTBN2

3.36

0.0084

spectrin, beta, non-erythocytic 2 (NM_006946)

AGRN

5.02

0.0088

agrin (NM_198576)

CLDN19

3.82

0.0094

claudin 19 (NM_001123395)

KRT8

3.48

0.0102

keratin 8 (NM_002273)

COL5A1

6.53

0.0142

collagen, type V, alpha 1 (NM_000093)

KRTAP1

3.54

0.00170

keratin associated protein 1-3 (NM_030966)

KRT7

8.75

0.0179

keratin 7 (NM_005556)

EMILIN1

3.04

0.0186

elastin mocrofibril interfacer 1 (NM_007046)

COL27A1

6.30

0.0204

collagen, type XXVII, alpha 1 (NM 032888)

MUC6

4.66

0.0271

mucin 6 (NM_005961)

KRT1

6.10

0.0307

keratin 1 (NM_006121)

KRT73

5.67

0.0307

lamin A/C (NM_170707)

MUC3B

4.89

0.0311

mucin 3B, cell surface associated (ENST00000379458)

COL11A2

8.72

0. 0369

collagen, type XI, alpha 2 (NM_001163771)

EVPL

4.72

0.0401

evoplakin (NM_170707)

KRT81

5.89

0.425

keratin 81 (NM_002281)

CHAD

3.72

0.0473

chondroadherin (NM_001267)

LAMC3

4.26

0.0473

laminin, gamma 3 (NM_006059)

  1. Gene ontology was performed using the Database for Annotation, Visualization and Integrated Discovery (DAVID). For this analysis, biological processes associated to each transcript were used to establish significant functional categories among the top results in each family. Ontology results from the DR (2) and Q families (2) are shown.