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. 2009 Feb 12;179(9):835–842. doi: 10.1164/rccm.200809-1472OC

TABLE 1.

CANDIDATE GENES (GENE ONTOLOGY ANNOTATION)

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.