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National Center for Chronic Disease Prevention and Health Promotion (US) Office on Smoking and Health. The Health Consequences of Smoking—50 Years of Progress: A Report of the Surgeon General. Atlanta (GA): Centers for Disease Control and Prevention (US); 2014.

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The Health Consequences of Smoking—50 Years of Progress: A Report of the Surgeon General.

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Definitions and Alternative Nomenclature of Genetic Symbols Used in This Report

Throughout this report, genes are represented by their abbreviations in italics. In many cases, proteins and enzymes related to these genes have the same abbreviation, presented in roman type. Definitions, alternative genetic symbols, related proteins and enzymes, and polymorphisms and variant genotypes are listed alphabetically by gene abbreviation.

Gene symbol used in this reportDefinitionAlternative gene symbolRelated protein/enzymePolymorphism/variant genotype
AATα1-antitrypsinSERPINA1AATPI*S, PI*Z, PI MZ, PI 22, GLN6VAL (S), GLN6LYS (Z)
ADDadducin 1 (alpha)ADD1ADD1GLY460TRP
AGTO6-alkylguanine–DNA alkyltransferaseAGTILE143VAL, GLY160ARG
AHRaryl hydrocarbon receptorAHR
AHRRaryl-hydrocarbon receptor repressorAHRR
AIB1amplified in breast 1NCOA3AIB1
AKTv-akt murine thymoma viral oncogene homolog 1AKT
ATMataxia telangiectasia mutatedATM
APCadenomatous polyposis coliAPC
APO2tumor necrosis factor receptor superfamily, member 10aAPO2
APOEapolipoprotein ETNFRSF10AAPOE*2
ARMS2age-related maculopathy susceptibility 2LOC387715 A69SARMS2rs10490942, rs10490912, rs10490924
BADBCL2-associated agonist of cell deathBBC2, BCL2L8BAD
BAXBCL2-associated X proteinBCL2L4BAX
BCL3B-cell CLL/lymphoma 3BCL3
BCL2L8BCL2-associated agonist of cell deathBADBCL2L8
BCL2L4BCL2-associated X proteinBAXBCL2L4
BHLHB5basic helix-loop-helix family, member e22BHLHE22BHE22
BHLHE22basic helix-loop-helix family, member e22BHLHB5BHLHB5
BICD1bicaudal D homolog 1 (Drosophila)BICD1
BMP4 T538Cbone morphogenetic protein 4BMP4
BOLLbol, boule-likeBOLL
BRCA1breast cancer 1, early onsetBRCA1
BRCA2breast cancer 2, early onsetBRCC2BRCA2HIS372ASN (T27113G), ILE3412VAL (G93268A
BRCC2breast cancer 2, early onsetBRCA2BRCC2
BRMS1breast cancer metastasis suppressor 1BRMS1
C3complement component 3 (C3)C3R102G, rs1047286, rs11569536, rs3745565, P314L
C7complement component 7CXCL10C7
CARD15nucleotide-binding oligomerization domain containing 2NOD2CARD15
CC2complement component 2CC2
CDKN2Acyclin-dependent kinase inhibitor 2AP16CDKN2A
CFBcomplement factor BCFB
CFHcomplement factor HCFHrs3753394, rs800292, rs1061147, rs1061170, rs380390, rs1329428, Y402H, rs1410996, rs2274700, T1277C, CAATTTAG (P1), CGGCTTAG (P2), rs1410996-AG, rs1410996-GG, (GG)rs10490924/(TT), (TT)rs10490924/(CC), Y402H, YY, AA, CC, TT, CT, HH
CHRNA3cholinergic receptor, nicotinic, α3CHRNA3
CHRNA5cholinergic receptor, nicotinic, α5CHRNA5
CHRNB4cholinergic receptor, nicotinic, β4CHRNB4
COX2mitochondrially encoded cytochrome c oxidase IICOX2
CRPC-reactive proteinCRP
CXCL10chemokine (C-X-C motif) ligand 10C7CXCL10
CYP17cytochrome P450, family 17, subfamily A, polypeptide 1CYP17A1CYP17
CYP1A1cytochrome P-450, family 1, subfamily A, polypeptide 1 (CYP1A1)CYP1A1*2A, *2C, m1/m2, *1, *2, MSPI
CYP1A2cytochrome P-450, family 1, subfamily A, polypeptide 1CYP1A1
CYP1B1cytochrome P450, family 1, subfamily B, polypeptide 1CYP1B1LEU/LEU, VAL/VAL, 119S
CYP2A6cytochrome P-450, family 2, subfamily A, polypeptide 6CYP2A6
CYP2E1cytochrome P450, family 2, subfamily E, polypeptide 1CYP2E1RSAI
DAT1dopamine active transporter 1SLC6A3DAT1+/+
DCCdeleted in colorectal carcinomaDCC
EGFRepidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) onco homolog, avian)EGFR
ELNElastinELN
ELOVL4ELOVL fatty acid elongase 4ELOVL4
ENOSendothelial nitric oxide synthaseNOS3ENOS, NOS3
EPHB2EPH receptor B2ERKEPHB2
EPHXepoxide hydrolaseEPHX
EPHX1epoxide hydrolase 1, microsomal (xenobiotic)EPHX1
ERBB2v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2HER2ERBB2
ERCC2excision repair cross-complementing rodent repair deficiency, complementation group 2XPDERCC2
ERCC4excision repair cross-complementing rodent repair deficiency, complementation group 4XPFERCC4
ERCC5excision repair cross-complementing rodent repair deficiency, complementation group 5XPGERCC5
ERCC6excision repair cross-complementing rodent repair deficiency, complementation group 6ERCC6
ERKextracellular signal-regulated kinaseEPHB2ERK
ESR1estrogen receptor 1ESR1
FAM13Afamily with sequence similarity 13, member AFAM13A
FBLN5fibulin 5FBLN5
FBXW7F-box and WD repeat domain containing 7, E3 ubiquitin protein ligaseFBXW7
FUT2fucosyltransferase 2 (secretor status included)SEFUT2
GADD45growth arrest and DNA-damage-inducible, alphaGADD45
GFI1growth factor independent 1 transcription repressorGFI1
GSTglutathione-S-transferaseGST
GSTA1glutathione S-transferase alpha 1GSTA1
GSTA4glutathione-S-transferase α4GSTA4
GSTM1glutathione-S-transferase μ1 (GSTM1)GSTM1-1GSTM1A/B
GSTM3glutathione S-transferase μ3 (brain)GSTM3
GSTP1glutathione S-transferase π1GSTP1
GSTT1glutathione-S-transferase θ1 (GSTT1)GSTT1-1GSTT1DEL
HER2human epidermal growth factor receptor 2ERBB2HER2
HHIPhedgehog interacting proteinHHIP
HIF1Ahypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)HIF1A
HLAmajor histocompatibility complexHLA-AHLASE
HLA-DPB1major histocompatibility complex, class II, DP beta 1HLA-DPB1
HLA-DPB2major histocompatibility complex, class II, DP beta 2 (pseudogene)HLA-DPB2
HO-1heme oxygenase (decycling) 1HMOX1HMOX1
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homologC-HRASC-HRAS, HRAS1 proto-oncoprotein
HTRA1HtrA (high temperature requirement factor A) serine peptidase 1HTRA1GG, rs11200638, AA
IBD1nucleotide-binding oligomerization domain containing 2IBD1
ICAM-1intercellular adhesion molecule 1ICAM-1GLY241ARG
IGHMP2immunoglobulin mu binding protein 2IGHMP2
IKKβinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase betaIKK
IL-1βinterleukin-1β (IL-1β)IL-1β
IL-12IL-12
IL-13interleukin-13IL-13
IL-4interleukin-4IL-4
IL-5interleukin-5IL-5
IL-6interleukin-6IL-6
IL-8interleukin-8IL-8
IL-10interleukin-10IL-10
IL-17Ainterleukin -17AIL-17A
IL-18interleukin -18IL-18
IL-23interleukin -23IL-23
IL-33interleukin -33IL-33
IP-10chemokine (C-X-C motif) ligand 10C-7, CXCL10CXL 10
IREB2iron-responsive element binding protein 2IREB2
IRF6interferon regulatory factor 6IRF6
JNK-1c-Jun N-terminal kinase 1MAPK8JNK-1
KRASK-ras (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog)KRAS
LacZbeta-galactosidaseLACZ
LC3Bmicrotubule-associated protein 1 light chain 3 betaLCB3
LGALS4lectin, galactoside-binding, soluble, 4LGALS4
LIG4ligase IV, DNA, ATP-dependentLIG4
LOC387715 A69Sage-related maculopathy susceptibility 2ARMS2LOC387715GG, GT+TT, rs10490924, rs10490942
MAOAmonoamine oxidase AMAOA5′uVNTR
MAPK8mitogen-activated protein kinase 8JNK-1MK08
mEH3microsomal epoxide hydrolase (mEH) polymorphism in exon 3mEH3
MEKmitogen-activated protein kinaseMEK
MGMTO6-methylguanine-DNA methyltransferaseMGMTLEU84PHE, ILE143VAL
MnSOD2manganese superoxide dismutase 2MnSOD2VAL (wild type), ALA
MMPmatrix metallopeptidaseMMP
MMP 9matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)MMP 9
MMP 12matrix metallopeptidase 12 (macrophage elastase)MMP 12
MPOmyeloperoxidaseMPO
MYH9myosin, heavy chain 9, non-muscleMYH9
MSX1muscle segment homeobox 1MSX1CA, X1.1, X1.3, X2.1, X2.4, T2090G
MTHFRmethylenetetrahydrofolate reductaseMTHFR677CT, CC
NAT1N-acetyltransferase 1NAT1, ARY11088, 1095, AA vs. TT, AA vs. CC, T1095A, 1088A, 1088TA, 1095CA
NAT2N-acetyltransferase 2NAT2, ARY2_SNP2, 282CT, 341TC, 481TC, 590GA, 857GA, *4, *5, *6, *7, *12, *13, *14, rs9987109, rs1208
NCOA3nuclear receptor coactivator 3AIB1NCOA3
NOD2nucleotide-binding oligomerization domain containing 2CARD15NOD2
NOS3nitric oxide synthase 3 (endothelial cell)ENOSENOS, NOS3A(-922)G, SNP2, GLU298ASP, G894T
NOTCH1notch1NOTCH1
NPPAnatriuretic peptide ANPAA2238TC
P16cyclin-dependent kinase inhibitor 2ACDKN2AP16
P53tumor suppressorP53
PIglutathione S-transferase pi 1SERPINA1S, Z, ZZ
PI7polymerase (DNA directed), epsilon 3, accessory subunitPOLE3P17
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alphaPIK3CA
polApolymerase (DNA directed), alpha 1, catalytic subunitPOLA1POLA
PTPN22protein tyrosine phosphatase, non-receptor type 22PTPN22
RAD23BRAD23 homolog B (S. cerevisiae)RAD23B
RAFrapidly accelerated fibrosarcomaRAF
Rag1recombination activating gene 1Rag1
RASrat sarcomaRAS
RASSF1ARas association (RalGDS/AF-6) domain family member 1 (A isoform)RASSF1A
RUNX1runt-related transcription factor 1RUNX1
SEfucosyltransferase 2FUT2SERs4646903
SERPINA1serpin peptidase inhibitor, clade A (α-1 antiproteinase, antitrypsin), member 1AATSERPINA1PI*Z, SZ
SERPINE2serpin peptidase hihibotir, clade E (nexin, plasminogen activator inhibitor type 2), member 2PI7SERPINE2
SERPINA3serpin peptidase inhibitor, clade A (α-1 antiproteinase, antitrypsin), member 3SERPINA3
SOD2superoxide dismutase 2SOD2
SOX5SRY (sex determining region Y)-box 5SOX5
STK11serine/threonine protein kinase 11STK11
SULTsulfotransferaseSULT
SULT1A1sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1SULT1L1ARG/HIS, *HIS
TGFtransforming growth factor-αTGF-TAQ1
TNFαtumor necrosis factor (TNF superfamily, member 2) αTNFα
TGFtransforming growth factor-βTGF-β
TGF3transforming growth factor-β3TGF-β3CA, x5.1, 5′UTR.1, T-24in4C, C641A, G15572
TNFRSF10Atumor necrosis factor receptor superfamily, member 10aTNFRSF10A
TNFRSF10Ctumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domainTNFRSF10C
TP53tumor protein 53TP53
TP63tumor protein 63TP63
TRPA1transient receptor potential cation channel, subfamily A, member 1TRPA1
UGT1A7UDP glucuronosyltransferase 1 family, polypeptide A7UGT1A7SNP1
VEGFvascular endothelian growth factorVEGFAVEGF
XPCxeroderma pigmentosum, complementation group CXPC
XPDxeroderma pigmentosum. Complementation group DERCC2XPDLYS751GLN, GLN/GLN
XPFxeroderma pigmentosum, complementation group FERCC4XPF
XPGxeroderma pigmentosum, complementation group GERCC5XPG
XRCC1x-ray repair complementing defective repair in Chinese hamster cells 1XRCC1ARG399GLN, ARG213HIS, ARG194TRP, ARG280HIS, C26602T, GLN632GLN, 194 ARG/ARG
XRCC2x-ray repair complementing defective repair in Chinese hamster cells 2XRCC2
XRCC3x-ray repair complementing defective repair in Chinese hamster cells 3XRCC3
XRCC5x-ray repair complementing defective repair in Chinese hamster cells 5XRCC5

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