TABLE 1.
Pathway | Gene | RefSeq | Chr | SNPs |
---|---|---|---|---|
Control of bloodcirculation GO:0008015 | Angiotensin I converting enzyme (ACE) | NM_152831 | 17q23 | 15 |
Elastin (ELN) | NM_000501 | 7q11 | 5 | |
Endothelin 1 (EDN1) | NM_001955 | 6p24 | 7 | |
Endothelin converting enzyme 1 (ECE1) | NM_001397 | 1p36 | 10 | |
Endothelin receptor, nonselective type (EDNRB) | NM_000115 | 13q22 | 13 | |
Endothelin receptor, type A (EDNRA) | NM_001957 | 4q31 | 11 | |
Heme oxygenase 1 (HMOX1) | NM_002133 | 22q13 | 8 | |
Natriuretic peptide precursor A (NPPA) | NM_006172 | 1p36 | 13* | |
Natriuretic peptide precursor B (NPPB) | NM_002521 | 1p36 | 13* | |
Nitric oxide synthase 2 (NOS2A) | NM_000625 | 17q11 | 15 | |
Phosphodiesterase 5 (PDE5A) | NM_001083 | 4q26 | 9 | |
Potassium channel, voltage-gated, shaker, member 5 (KCNA5) | NM_002234 | 12p13 | 9 | |
Rho-associated protein kinase 2 (ROCK2) | NM_004850 | 2p24 | 15 | |
Transient receptor potential cation channel, subfamily C, 6 (TRPC6) | NM_004621 | 11q21 | 18 | |
Cell growth apoptosis GO:0008283 GO:0006915 | Activin A receptor, type II-like kinase (ACVRL1) | NM_000020 | 12q11 | 6 |
Apolipoprotein E (APOE) | NM_000041 | 19q13 | 4 | |
BCL2-associated X protein (BAX) | NM_138764 | 19q13 | 6 | |
Bone morphogenetic protein receptor type 1a (BMPR1A) | NM_004329 | 10q22 | 20 | |
Bone morphogenetic protein receptor type 2 (BMPR2) | NM_001204 | 2q33 | 12 | |
Caveolin 1 (CAV1) | NM_001753 | 7q31 | 20* | |
Caveolin 2 (CAV2) | NM_001233 | 7q31 | 20* | |
Caveolin 3 (CAV3) | NM_033337 | 3p25 | 19 | |
CD14 molecule (CD14) | NM_000591 | 5q22 | 3 | |
Cyclin-dependent kinase inhibitor 2A (CDKN2A) | NM_000077 | 9p21 | 13 | |
Growth differentiation factor 2 (GDF2) | NM_016204 | 10q11 | 5 | |
Homolog of Drosophila mothers against dpp 3 (SMAD3) | NM_005902 | 15q21 | 34 | |
Homolog of Drosophila mothers against dpp 4 (SMAD4) | NM_005359 | 18q21 | 5 | |
Nitric oxide synthase 3 (NOS3) | NM_000603 | 7q36 | 10 | |
Nuclear factor kappa B p100 subunit (NFKB2) | NM_001077493 | 10q24 | 5 | |
Nuclear factor kappa B p105 subunit (NFKB1) | NM_003998 | 4q23 | 13 | |
Nuclear factor kappa B p65 subunit (RELA) | NM_021975 | 11q13 | 4 | |
Prostaglandin I2 synthase (PTGIS) | NM_000961 | 20q13 | 13 | |
Protein kinase C, alpha (PRKCA) | NM_002737 | 17q22 | 33 | |
Protein kinase C, beta 1 (PRKCB1) | NM_002738 | 16p11 | 13 | |
Protein kinase C, gamma (PRKCG) | NM_002739 | 19q13 | 5 | |
Transforming growth factor, Beta-1 (TGFB1) | NM_000660 | 19q13 | 5 | |
V-AKT murine thymoma viral oncogene homolog 1 (AKT1) | NM_005163 | 14q32 | 7 | |
Blood vessel growth anddevelopment GO:0001568 | Angiopoietin 1 (ANGPT1) | NM_001146 | 8q22 | 37 |
Calcium-binding protein A4 (S100A4) | NM_019554 | 1q21 | 6 | |
Endoglin (ENG) | NM_000118 | 9q34 | 15 | |
Hypoxia-inducible factor 1, alpha subunit (HIF1A) | NM_001530 | 14q21 | 8 | |
Plasminogen (PLG) | NM_000301 | 6q26 | 21 | |
Runt-related transcription factor 1 (RUNX1) | NM_001754 | 21q22 | 58 | |
Thrombospondin-1 (THBS1) | NM_003246 | 15q15 | 5 | |
Tyrosine kinase with Ig and EGF factor homology domains (TIE1) | NM_005424 | 1p34 | 8 | |
Vascular endothelial growth factor (VEGF) | NM_00125366 | 6p12 | 7 | |
Inflammation GO:0006954 | Complement component 4A (C4A) | NM_007293 | 6p21 | 4 |
C-reactive protein (CRP) | NM_000567 | 1q21 | 8 | |
Cytochrome b-245, NADPH oxidase 2, NOX2 (CYBB) | NM_000397 | Xp21 | 6 | |
Lipopolysaccharide binding protein (LBP) | NM_004139 | 20q11 | 7 | |
Tumor necrosis factor (TNF) | NM_000594 | 6p21 | 5 | |
Oxidation reduction GO:0006979 | Dual oxidase 1 (DUOX1) | NM_017434 | 15q15 | 15* |
Dual oxidase 2 (DUOX2) | NM_014080 | 15q15 | 15* | |
NADPH oxidase 1 (NOX1) | NM_007052 | Xq22 | 7 | |
NADPH oxidase 4 (NOX4) | NM_016931 | 11q14 | 19 | |
Superoxide dismutase 1, soluble (SOD1) | NM_000454 | 21q22 | 3 | |
Superoxide dismutase 2, mitochondrial (SOD2) | NM_00636 | 6q25 | 3 | |
Xanthine dehydrogenase (XDH) | NM_00379 | 2p23 | 24 | |
Tissue development GO:0009888 | Homolog of Drosophila mothers against dpp 2 (SMAD2) | NM_005901 | 18q21 | 10 |
Ikaros (IKZF1) | NM_006060 | 7p12 | 7 | |
Peroxisome proliferator activated receptor, gamma (PPARG) | NM_005037 | 3p25 | 13 | |
Recombination signal-binding protein 1 for J-kappa (RBPSUH) | NM_005349 | 4p15 | 13 | |
Steroid hormone GO:0008202 GO:0030518 | Aromatase (CYP19A1) | NM_000103 | 15q21 | 24 |
Estrogen receptor 1 (ESR1) | NM_000125 | 6q25 | 36 | |
Estrogen receptor 2 (ESR2) | NM_001437 | 14q24 | 14 | |
Farnesoid X receptor (NR1H4) | NM_005123 | 12q | 7 | |
Pregnane X receptor (NR1I2) | NM_003889 | 3q13 | 13 | |
Sex hormone binding globulin (SHBG) | NM_001040 | 17p13 | 6 | |
Small heterodimer partner (NR0B2) | NM_021969 | 1p36 | 5 | |
Extracellular matrix structure and regulation GO:0043062 GO:0006508 | Collagen, type XVIII, alpha-1 (COL18A1) | NM_130445 | 21q22 | 29 |
Elastase 1 (ELA1) | NM_001971 | 12q13 | 8 | |
Elastase 2 (ELA2) | NM_001972 | 19p13 | 4 | |
Matrix metalloproteinase 2 (MMP2) | NM_004530 | 16q13 | 11 | |
Matrix metalloproteinase 3 (MMP3) | NM_002422 | 11q23 | 6 | |
Matrix metalloproteinase 9 (MMP9) | NM_004994 | 20q11 | 6 | |
Proteinase inhibitor 3; elafin (PI3) | NM_002638 | 20q12 | 4 | |
Tenascin C (TNC) | NM_002160 | 9q33 | 16 | |
Coagulation GO:0050817 | Plasminogen activator inhibitor 1 (SERPINE1) | NM_000602 | 7q21 | 9 |
Thrombomodulin (THBD) | NM_000361 | 20p11 | 4 | |
Thromboplastin (HEMB) | NM_000133 | Xq27 | 11 | |
Von Willebrand factor (VWF) | NM_000552 | 12p13 | 39 | |
Serotonin GO:0006587 GO:0007210 | Serotonin 2B receptor (HTR2B) | NM_000867 | 2q36 | 8 |
Tryptophan hydroxylase 1 (TPH1) | NM_004179 | 11p15 | 8 | |
Tryptophan hydroxylase 2 (TPH2) | NM_173353 | 12q21 | 16 | |
Na/bile acid transporter GO:0008508 | Solute carrier family 10, member 1 (SLC10A1) | NM_003049.1 | 14q24 | 5 |
Solute carrier family 10, member 2 (SLC10A2) | NM_000452.1 | 13q33 | 12 | |
Metabolism GO:0008152 | 5,10-methylenetetrahydrofolate reductase (MTHFR) | NM_005957 | 1p36 | 7 |
Betaine-homocysteine methyltransferase (BHMT) | NM_001713 | 5q13 | 4 | |
Cystathionine-beta-synthase (CBS) | NM_000071 | 21q22 | 6 | |
Peroxisome proliferator activated receptor, alpha (PPARA) | NM_005036 | 22q12 | 9 | |
Retinoic acid signaling GO:0048384 | Retinoic acid receptor, alpha (RARA) | NM_000964 | 17q21 | 4 |
Retinoic acid receptor, beta (RARB) | NM_016152 | 3p24 | 29 | |
Retinoic acid receptor, gamma (RARG) | NM_000966 | 12q13 | 6 |
Definition of abbreviations: Chr = chromosome; RefSeq = Reference Sequence; SNP = single-nucleotide polymorphism.
Indicates adjacent genes that were defined by a single genomic region and tagging SNPs. Thus the number of SNPs indicated refers to the total number of SNPs assayed in the region containing both genes.