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  • Most of the genes in the list below have been studied in a systematic way. Exons, introns (in part) and/or flanking sequences (of various length) of at least 40 alleles¹ have been scanned by PCR/SSCP analysis and sequencing.
  • Some of the reported polymorphisms have already been published, others not.
    Apart from the information required for genotyping, a description of polymorphisms and some population statistics are provided. These statistics have been estimated in 750 European individuals from the ECTIM Study (Parra et al., Arterioscler. Thromb. 1992; Vol.12(6) pp.701-707). They include allele frequencies, pairwise linkage disequilibrium between polymorphisms and haplotype frequencies. This information may be useful for choosing an appropriate subset of polymorphisms to carry out association or linkage studies.
        ¹ Number of alleles scanned until September 1998. Then 80 alleles until May 1999, and 192
          afterwards.



Nomenclature : The gene abbreviation is taken from OMIM
(catalog of human genes and genetic disorders).
Go to OMIM
 
Alphabetical list : There are 167 genes listed below ...
List of Genes
 
A     B     C     D     E     F     G     H     I     K     L     M     N     O     P     S     T     V


  Symbol Name
   
Back to top   A ACE Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ADD1 Adducin 1 (alpha)
ADH1C Alcohol dehydrogenase 1C (class I), gamma polypeptide
ADRA2A Adrenergic, alpha-2A-, receptor
ADRA2B Adrenergic, alpha-2B-, receptor
ADRB1 Adrenergic, beta-1-, receptor
ADRB2 Adrenergic, beta-2-, receptor, surface
ADRB3 Adrenergic, beta-3-, receptor
ADRBK1 Adrenergic, beta, receptor kinase 1
AGER Advanced glycosylation end product-specific receptor
AGT Angiotensin 1
AGTR1 Angiotensin II receptor, type 1
AGTR2 Angiotensin II receptor, type 2
AMPD_1 Adenosine monophosphate deaminase 1 (isoform M)
APOA1 Apolipoprotein A-I
APOA2 Apolipoprotein AII
APOA4 Apolipoprotein A-IV
APOA5 Apolipoprotein A5
APOB Apolipoprotein B (including Ag(x) antigen)
APOC3 Apolipoprotein C-III
APOE Apolipoprotein E
Back to top   B BDKRB2 Bradykinin receptor B2
BGLAP Bone gamma-carboxyglutamate (gla) protein (osteocalcin)
BNP Natriuretic peptide precursor B
Back to top   C CASP1 Caspase 1
CAV1 Caveolin 1, caveolae protein, 22kDa
CAV2 Caveolin 2
CAV3 Caveolin 3
CBS Cystathionine-beta-synthase
CCL2 Chemokine (C-C motif) ligand 2
CCR2 Chemokine (C-C motif) receptor 2
CCR5 Chemokine (C-C motif) receptor 5
CD14 CD14 antigen
CD24 CD24 antigen (small cell lung carcinoma cluster 4 antigen)
CD36 CD36 antigen (collagen type I receptor, thrombospondin receptor)
CDH5 Cadherin 5, type 2, VE-cadherin (vascular epithelium)
CETP Cholesteryl ester transfer protein, plasma
CFH Complement Factor H
CHROM2 Chrom2q36.3a
CHROM9 Chrom9p21.3c
CPB2 Carboxypeptidase B2 (plasma, carboxypeptidase U)
CSF1 Colony stimulating factor 1 (macrophage)
CSF2 Colony stimulating factor 2 (granulocyte-macrophage)
CTSG Cathepsin G
CX3CR1 Chemokine (C-X3-C motif) receptor 1
CYP11B2 Cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2
CYP1A1 Cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1
CYP2E1 Cytochrome P450, family 2, subfamily E, polypeptide 1
Back to top   D DDOST Dolichyl-diphosphooligosaccharide-protein glycosyltransferase
Back to top   E ECE1 Endothelin converting enzyme 1
EDN1 Endothelin 1
EDNRA Endothelin receptor type A
EDNRB Endothelin receptor type B
EGR1 Early growth response 1
ELA2 Elastase 2, neutrophil
Back to top   F F13A1 Coagulation factor XIII, A1 polypeptide
F2 Coagulation factor II (thrombin)
F3 Coagulation factor III (thromboplastin, tissue factor)
F5 Coagulation factor V (proaccelerin, labile factor)
F7 Coagulation factor VII
FGA Fibrinogen, A alpha polypeptide
FGB Fibrinogen, B beta polypeptide
FGG Fibrinogen, gamma polypeptide
Back to top   G GATA4 GATA binding protein 4
GCGR Glucagon receptor
GNB3 Guanine nucleotide binding protein (G protein), beta polypeptide 3
GPX1 Glutathione peroxidase 1
GSTM1 Glutathione S-transferase M1
GSTT1 Glutathione S-transferase theta 1
GYS1 Glycogen synthase 1 (muscle)
Back to top   H HFE Hemochromatosis
HGF Hepatocyte growth factor (hepapoietin A; scatter factor)
HRG Histidine-rich glycoprotein
Back to top   I ICAM1 Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor
ICAM3 Intercellular adhesion molecule 3
IGF1 Insulin-like growth factor 1 (somatomedin C)
IL10 Interleukin 10
IL15 Interleukin 15
IL18 Interleukin 18 (interferon-gamma-inducing factor)
IL18BP Interleukin 18 binding protein
IL18R1 Interleukin 18 receptor 1
IL18RAP Interleukin 18 receptor accessory protein
IL1A Interleukin 1, alpha
IL1B Interleukin 1, beta
IL1R1 Interleukin 1 receptor, type I
IL1R2 Interleukin 1 receptor, type II
IL1RAP Interleukin 1 receptor accessory protein
IL1RN Interleukin 1 receptor antagonist
IL2 Interleukin 2
IL6 Interleukin 6 (interferon, beta 2)
INS Insulin
IRS1 Insulin receptor substrate 1
IRS2 Insulin receptor substrate 2
ITGA4 Integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGAL Integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide
ITGAM Integrin, alpha M
ITGAV Integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)
ITGAX Integrin, alpha X (antigen CD11C (p150), alpha polypeptide)
ITGB1 Integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB2 Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1
ITGB3 Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
Back to top   K KCNMB1 Potassium large conductance calcium-activated channel, subfamily M, beta member 1
Back to top   L LDLR Low density lipoprotein receptor
LGALS3 Lectin, galactoside-binding, soluble, 3 (galectin 3)
LIPC Hepatic lipase
LIPG Endothelial Lipase
LPA Lipoprotein, Lp(a)
LPL Lipoprotein lipase
LTA Lymphotoxin alpha (TNF superfamily, member 1)
Back to top   M MGP Matrix Gla protein
MMP9 Matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)
MPO Myeloperoxidase
MS Methionine synthase
MSR1 Macrophage scavenger receptor 1
MSX1 Msh homeo box homolog 1
MTHFD1L Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTHFR 5,10-methylenetetrahydrofolate reductase (NADPH)
MTP Microsomal triglyceride transfer protein (large polypeptide, 88kDa)
Back to top   N NCX1 Solute carrier family 8 (sodium/calcium exchanger), member 1
NFATC4 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4
NOS1AP NOS1AP
NOS2A Nitric oxide synthase 2A (inducible, hepatocytes)
NOS3 Nitric oxide synthase 3 (endothelial cell)
NPPA Natriuretic peptide precursor A
Back to top   O OLR1 Oxidised low density lipoprotein (lectin-like) receptor 1
Back to top   P P2RY1 Purinergic receptor P2Y, G-protein coupled, 1
PAI1 Serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1),
PDGFA Platelet-derived growth factor alpha polypeptide
PDGFB Platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)
PDGFRA Platelet-derived growth factor receptor, alpha polypeptide
PDGFRB Platelet-derived growth factor receptor, beta polypeptide
PECAM1 Platelet/endothelial cell adhesion molecule (CD31 antigen)
PLA2G10 Phospholipase A2 group X
PLA2G7 Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PON1 Paraoxonase 1
PPARA Peroxisome proliferative activated receptor, alpha
PPARG Peroxisome proliferative activated receptor, gamma
PPP1R2 Protein phosphatase 1, regulatory (inhibitor) subunit 2
PPP1R3 Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum bindin
PPP3CA Protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)
PPP3CB Protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)
PRKCSH Protein kinase C substrate 80K-H
PSMA6 Proteasome (prosome, macropain) subunit, alpha type, 6
PTAFR Platelet-activating factor receptor
Back to top   S SAH SA hypertension-associated homolog
SCARB1 SCARB1 (scavenger receptor class B, member 1)
SCL6A4 Solute carrier family 6 (neurotransmitter transporter serotonin), member 4
SELE Selectin E (endothelial adhesion molecule 1)
SELL Selectin L (lymphocyte adhesion molecule 1)
SELP Selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG Selectin P ligand
SPP1 Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)
SREBF2 Sterol Regulatory Element-Binding Transcription Factor 2
Back to top   T TFPI Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFA Transforming growth factor, alpha
TGFB1 Transforming growth factor, beta 1 (Camurati-Engelmann disease)
TGFB3 Transforming growth factor, beta 3
TLR4 Toll-like receptor 4
TNF Tumor necrosis factor (TNF superfamily, member 2)
TNFAIP6 Tumor necrosis factor, alpha-induced protein 6
TNFRSF1A Tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B Tumor necrosis factor receptor superfamily, member 1B
TNFSF5 Tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)
TR Coagulation factor II (thrombin) receptor
Back to top   V VCAM1 Vascular cell adhesion molecule 1
VDR Vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGF Vascular endothelial growth factor