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. Author manuscript; available in PMC: 2010 Apr 28.
Published in final edited form as: Cancer Res. 2008 Aug 1;68(15):6442–6452. doi: 10.1158/0008-5472.CAN-08-0444

Table 1.

Selected inflammatory genes and SNPs included in the study

Gene Name Major Function
Related to Inflammation
Location No.
of
SNPsa
SNP rs # Nucleotide
Change
(Amino Acid
Change)
Putatively
Functional
Location in
Geneb
Also called
22 62

Interleukins

IL1A Interleukin 1-alpha Stimulates proliferation and
activation of T, B, and other
immune cells.
2q13 4 rs17561

rs2856841
rs2071374
rs1800587
Ex5+21G>T
(A114S)
IVS4-96T>C
IVS4-109A>C
Ex1+12C>T
Exon 5

Intron
Intron
Exon 1/899,
5'UTR
IL1B Interleukin 1-beta Stimulates proliferation and
activation of T, B, and other
immune cells.
2q14 3 rs16944
rs1143634
rs1143627
−1060T>C
Ex5+14C>T
(F105F)
−580C>T
Intron
Exon 5
Intron
IL4 Interleukin 4 Simulates proliferation of T and
endothelium cells
5q31.1 6 rs2243250
rs2243248
rs2070874
rs2243267
rs2243268
rs2243290
−588C>T
−1098G>T
Ex1-168C>T
IVS2-1520G>C
IVS2-1443A>C
IVS3-9C>A
Intron
Intron
Exon 1/5'UTR
Intron
Intron
Intron
IL5 Interleukin 5 Induces differentiation of
eosinophils and B cells
5q31.1 3 rs2069812
rs2069807
rs2069818
−745C>T
−1551C>T
Ex4+78C>A
(T128T)
Intron
Intron
Exon 4
IL6 Interleukin 6 Induces differentiation of
hematopoietic stem and other
immune cells
7p15.3 3 rs1800795
rs1800796
rs1800797
−236C>G
−635C>G
−660A>G
Intron
Intron
Intron
IL8 Interleukin 8 Involved in neutrophil chemotaxis 4q12-q13 3 rs4073
rs2227307
rs2227306
−351A>T
IVS1+230T>G
IVS1-204C>T
Intron
Intron
Intron
IL8-251
IL8+396
IL8-781
IL10 Interleukin 10 Inhibits cytokine production of T
helper 1 cells while stimulates T
helper 2 cells
1q31-q32 5 rs3024496
rs3024491
rs1800871


rs1800872


rs1800896
Ex5+210T>C
IVS1-286G>T
−7334T>C
−853C>T

−6653A>C


−1116A>G
3'UTR
Intron
Intron


Intron


Intron


IL10-819
IL10-824
IL10-854
IL10-592
IL10-595
IL10-627
IL10-1082
IL10-1087
IL10-1117
IL13 Interleukin 13 Stimulates growth and
differentiation of B cells and
inhibits T helper cells as well as
inhibits production of macrophage
inflammatory cytokines
5q31 3 rs1800925
rs1295686
rs20541
−1069C>T
IVS3-24T>C
Ex4+98A>G
(Q144R)
Intron
Intron
Exon 4
IL16 Interleukin 16 Influences CD4+ T cell function 15q25.1 2 rs859
rs11325
Ex22+871A>G
Ex22+889G>T
3'UTR
3’UTR

Interleukin Receptors

IL8RA Interleukin 8
receptor, alpha
Signals neutrophil chemotaxis
after binding its ligand (i.e., IL8)
2q35 1 rs2234671 Ex2+860G>C
(S276T)
Exon 2
IL8RB Interleukin 8
receptor, beta
Signals neutrophil chemotaxis
after binding its ligand (i.e., IL8)
2q35 3 rs1126579
rs1126580
rs2230054
Ex3+1235T>C
Ex3-1010G>A
Ex3+811C>T
(L262L)
Exon 3
3’UTR
Exon 3

IL8RB1440

Other Inflammation-related Genes

PPARD Peroxisome
Proliferative
activated receptor,
delta
May suppress macrophage
activity that leads to reduction of
atherosclerotic change
6p21.2-p21.1 1 rs2016520 Ex4+15C>T 5'UTR
PPARG Peroxisome
Proliferative
activated receptor,
gamma 
May be involved in anti-
inflammatory processes through
its ability to inhibit transcription
factors of pro-inflammatory
genes; can be activated by some
non-steroidal anti-inflammatory
drugs
3p25 2 rs2938392
rs3856806
IVS7+35G>A
Ex10+161C>T
(H477H)
Intron
Exon 10
RNASEL Ribonuclease L Encodes an interferon-inducible
ribonuclease
1q25 2 rs486907

rs11072
Ex1-96G>A
(R462Q)
Ex6-560T>C
Exon 1

3'UTR
R462Q
SOD2 Superoxide
dismutase 2
Regulates inflammation through
reactions with reactive oxygen
species
6q25.3 1 rs4880 Ex2+24T>C
(V16A)
Exon 2
MPO Myeloperoxidase Regulates inflammation through
reactions with reactive oxygen
species
17q23.1 2 rs2333227
rs2243828
−642G>A
−764T>C
Intron
Intron
NOS2 Nitric oxide
synthase2
Controlled by inflammatory
mediators and cytokines resulting
in production of unregulated
quantities of nitric oxide.
17q11.2-q12 2 rs944722
rs2297518
IVs20+524G>A
Ex16+14C>T
(S608L)
Intron
Exon 16
NOS3 Nitric oxide
synthase3
Produces nitric oxide in response
to acute inflammation.
7q36 2 rs1799983

rs1007311
Ex8-63T>G
(D298E)
IVS7-26A>G
Exon 8

Intron
TGFB1 Transforming growth
factor, beta 1
Maintains T cell homeostasis 19q13.2 2 rs1800469

rs1982073
308bp 3` of STP
C>T
Ex1-327C>T
(P10L)
Intron

Exon 1
TNF Tumor necrosis
factor
Inflammatory cytokine that
promotes hyperlipidemia by
increasing hepatic triglyceride
production and decreasing
clearance
6p21.3 7 rs1799964
rs1800630
rs1799724
rs1800750
rs1800629
rs361525
rs1800610
−1210T>C
−1042C>A
−1036T>C
−555A>G
−487A>G
−427A>G
IVS1+123G>A
Intron
Intron
Intron
Intron
Intron
Intron
Intron
TNF-301
TNF-863
TNF-857
TNF-367
TNF-308
TNF-238
VCAM1 Vascular cell
adhesion molecule 1
A cell surface glycoprotein of the
Ig gene superfamily and may be
responsible for recruiting immune
cells to sites of active
inflammation
1p32-p31 3 rs1041163
rs3176878

rs3176879
−1591C>T
Ex9+20C>T
(D601D)
Ex9+149G>A
(K644K)
Intron
Exon 9

Exon 9
VEGF Vascular endothelial
growth factor
Involved in inflammation-related
angiogenesis
6p12 1 rs3025039 236bp 3’ of STP
C>T EX8+259C>T
Exon 8/3'UTR C936T
a

UNumber of SNPs typed in the study

b

UTR= Untranslated region