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Table 3 Genes associated with AMD that cluster into five major pathways

From: AMD and the alternative complement pathway: genetics and functional implications

Inflammation and immune response

Cell stress response

C2

Complement component 2

HLA-C

Major histocompatibility complex, class I, C

ABCA4

ATP-binding cassette subfamily A member 4

HTRA1

HtrA serine peptidase 1

C3

Complement component 3

IL8

Interleukin B

ACE

Angiotensin I converting enzyme 1

RORA

RAR-related orphan receptor alpha

CFB

Complement factor B

MMP9

Matrix metallopeptidase 9

APOE

Apoliporotein E

SOD2

Superoxide dismutase 2, mitochondrial

CFH

Complement factor H

PLEKHA1

Pleckstrin homology domain containing, family A member 1

ARMS2

Age-related maculopathy susceptibility 2

TF

Transferrin

CFD

Complement factor D

RORA

RAR-related orphan receptor alpha

CST3

Cystatin C

TLR3

Toll-like receptor 3

CFHR1-5

Complement factor H-related 1-5

SERPING1

Serpin peptidase inhibitor, clade G, member 1

CX3CR1

Chemokine receptor 1

TLR4

Toll-like receptor 4

CFI

Complement factor I

TLR3

Toll-like receptor 3

CYP24A1

Cytochrome P450, family 24, subfamily A peptide 1

VLDLR

Very low-density lipoprotein receptor

C9

Complement component 9

TLR4

Toll-like receptor 4

GSTM1

Glutathione S-transferase mu 1

TNFRSF10A/LOC389641

Tumor necrosis factor receptor superfamily, member 10a

CX3CR1

Chemokine receptor 1

VLDLR

Very low-density lipoprotein receptor

GSTP1

Glutathione S-transferase pi 1

IER3

Immediate early response 3

F13B

Coagulation factor XIII, B polypeptide

VTN

Vitronectin

GSTT1

Glutathione S-transferase tau 1

TGFBR1

Transforming growth factor, beta receptor 1

Lipid metabolism and transport

Extracellular matrix and cell adhesion

ABCA1

ATP-binding cassette, subfamily A, member 1

FADS1-3

Fatty acid desaturases 1-3

ACE

Angiotensin 1 converting enzyme 1

ROBO1

Roundabout, axon guidance receptor, homolog 1

ABCA4

ATP-binding cassette, subfamily A, member 4

LIPC

Hepatic lipase

ARMS2

Age-related maculopathy susceptibility 2

TIMP3

Tissue inhibitor of metalloproteinase 3

APOE

Apolipoprotein E

LPL

Lipoprotein lipases

ADAMTS9

ADAM metallopeptidase with trhombospondin type 1 motif, 9

MMP19

Matrix metallopeptidase 19

CETP

Cholesteryl ester transfer protein, plasma

LRP6

Low-density lipoprotein receptor-related protein 6

COL8A1

Collagen, type VIII, alpha 1

PCOLCE

Procollagen c-endopeptidase enhancer

CFHR1-5

Complement factor H-related 1-5

RORA

RAR-related orphan receptor alpha

COL10A1

Collagen, type X, alpha 1

VTN

Vitronectin

CYP24A1

Cytochrome P450, family 24, subfamily A peptide 1

VLDLR

Very low-density lipoprotein receptor

CST3

Cystatin C

ABCA7

ATP-binding cassette, cubfamily A, member 7

ELOVL4

ELVL fatty acid elongase 4

PLTP

Phospholipid transfer protein

CX3CR1

Chemokine receptor 1

ACTG1

Actin gamma 1

Angiogenesis

F13B

Coagulation factor XIII, B polypeptide

BCAR1

Breast cancer anti-estrogen resistance 1

ACE

Angiotensin I converting enzyme 1

LRP6

Low-density lipoprotein receptor-related protein 6

FBLN5

Fibulin 5

COL4A4

Collagen, type IV, alpha 4

COL10A1

Collagen, type X, alpha 1

MMP9

Matrix metallopeptidase 9

HMCN1

Hemicentin

ITGA7

Integrin, alpha 7

COL8A1

Collagen, type VIII, alpha 1

RORA

RAR-related orphan receptor alpha

HTRA1

HtrA serine peptidase 1

MYL2

Myosin, light chain 2, regulatory, cardiac, slow

CST3

Cystatin C

SERPINF1

Serpin peptidase inhibitor, clade F

MMP9

Matrix metallopeptidase 1

  

FBLN5

Fibulin 5

TIMP3

Tissue inhibitor of metalloproteinase 3

    

GDF6

Growth differentiation factor 6

VEGFA

Vascular endothelial growth factor A

    

HTRA1

HtrA serine peptidase 1

VLDLR

Very low-density lipoprotein receptor

    

IL8

Interleukin 8

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