Table 1.
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 |
UNumber of SNPs typed in the study
UTR= Untranslated region