Table 1

Inflammatory response and other immunoregulatory genes and single nucleotide polymorphisms (SNPs) evaluated

Gene symbolGene nameLocationAlias (SNP500 location)RS no.
IL1A Interleukin 1-α 2q13 A114S (Ex5+21G>T), C−889T (Ex1+12C>T) rs17561*, rs1800587* 
IL1B Interleukin 1-β 2q14 C−511T, C3954T or F105F, C−31T rs16944*, rs1143634*, rs1143627* 
IL1RN Interleukin 1 receptor antagonist 2q14.2 A9589T rs454078* 
IL8RB Interleukin 8 receptor β 2q35 (3′-UTR, Ex3+1235T>C), (3′-UTR, Ex3-1010G>A), L262L (Ex3+811C>T) rs1126579*, rs1126580*, rs2230054* 
 Interleukin 8 4q12-q13 T-251A, (IVS1+230G>T), (IVS1−204C>T) rs4073*, rs2227307*, rs2227306* 
TNF Tumor necrosis factor 6p21.3 G−308A, G−238A, C-857T, A−863C rs1800629*, rs361525*, rs1799724*, rs1800630† 
LTA Lymphotoxin-α 6p21.3 A252G C−91A rs909253*, rs2239704* 
IL6 Interleukin 6 7p15.3 G−174C, G−597A or G−598A rs1800795*, rs1800797* 
IL16 Interleukin 16 15q25.1 3′-UTR, Ex22+871A>G, 3′-UTR, Ex22+889G>T rs859*, rs11325* 
VCAM1 Vascular cell adhesion molecule 1 1p32-p31 T−1591C, K644K (Ex9+149G>A) rs1041163*, rs3176879* 
FCGR2A Receptor for Fc fragment of IgG, low-affinity IIa (CD32) 1q21-q23 H165R (Ex4−120A>G) rs1801274* 
SELE Selectin E 1q22-q25 S149R (Ex4+24A>C) rs5361* 
IL10 Interleukin 10 1q31-q32 C−819T, C−592A, A−1082G, T−3575A rs1800871*, rs1800872*, rs1800896*, rs1800890* 
STAT1 Signal transducer and activator of transcription 1 2q32.2-q32.3 IVS21−8C>T (splice) rs2066804* 
CTLA4 Cytotoxic T lymphocyte-associated 4 2q33 T17A (Ex1−61A>G) rs231775* 
CCR2 Chemokine, CC motif, receptor 2 3p21 V64I (Ex2+241G>A) rs1799864* 
CCR5 Chemokine, CC motif, receptor 5 3p21 Δ32 rs333* 
CX3CR1 Chemokine, CXC motif 3p21 V249I (Ex2+754G>A) rs3732379* 
IL12A Interleukin 12, α 3q25.33 G8685A rs568408* 
IL2 Interleukin 2 4q26-q27 Ex2T>G rs2069762* 
IL15 Interleukin 15 4q31.21 3′-UTR, Ex9−66T>C rs10833* 
IL7R Interleukin 7 receptor (CD127) 5p13 V138I (Ex4+33G>A) rs1494555* 
IL13 Interleukin 13 5q23.3 Q144R (Ex4+98A>G), C−1069T rs20541*, rs1800925* 
IL4 Interleukin 4 5q31.1 C−524T, T−1098G, 5′-UTR, Ex1-168C>T rs2243250*, rs2243248*, rs2070874* 
IL5 Interleukin 5 5q31.1 C−745T, C−1551T, Ex4+78C>A rs2069812*, rs2069807*, rs2069818† 
IL12B Interleukin 12B 5q33.3 3′-UTR, Ex8+159A>C rs3212227* 
IFNGR1 Interferon γ receptor 1 6q23-q24 IVS6−4G>A rs3799488* 
TLR4 Toll-like receptor 4 9q32-q33 D299G (Ex4+636A>G) rs4986790* 
IL15RA Interleukin 15 receptor α 10p15.1 3′-UTR, Ex8−361A>C rs2296135* 
CXCL12 Chemokine, CXC motif, ligand 12 (SDF-1) 10q11.1 3′-UTR, Ex4+535C>T rs1801157* 
IL10RA Interleukin 10 receptor α 11q23.3 3′-UTR, Ex7−109G>A rs9610* 
IL4R Interleukin 4 receptor 16p12.1-p11.2 C−29429T rs2107356* 
JAK3 Janus kinase 3 19p13.1 3′-UTR, Ex23+291A>G, IVS2+42G>A, IVS2+40G>A rs3008*, rs3212713†, rs3212712† 
ICAM1 Intercellular adhesion molecule 1 19p13.3-p13.2 K56M (Ex2+100A>T) rs5491* 
IFNG Interferon γ 21q14 IVS3+284G>A, C−1615T rs1861494*, rs2069705* 
IFNGR2 Interferon γ receptor 2 21q22.1-q22.2 Q64R (Ex2−16A>G) rs9808753* 
Gene symbolGene nameLocationAlias (SNP500 location)RS no.
IL1A Interleukin 1-α 2q13 A114S (Ex5+21G>T), C−889T (Ex1+12C>T) rs17561*, rs1800587* 
IL1B Interleukin 1-β 2q14 C−511T, C3954T or F105F, C−31T rs16944*, rs1143634*, rs1143627* 
IL1RN Interleukin 1 receptor antagonist 2q14.2 A9589T rs454078* 
IL8RB Interleukin 8 receptor β 2q35 (3′-UTR, Ex3+1235T>C), (3′-UTR, Ex3-1010G>A), L262L (Ex3+811C>T) rs1126579*, rs1126580*, rs2230054* 
 Interleukin 8 4q12-q13 T-251A, (IVS1+230G>T), (IVS1−204C>T) rs4073*, rs2227307*, rs2227306* 
TNF Tumor necrosis factor 6p21.3 G−308A, G−238A, C-857T, A−863C rs1800629*, rs361525*, rs1799724*, rs1800630† 
LTA Lymphotoxin-α 6p21.3 A252G C−91A rs909253*, rs2239704* 
IL6 Interleukin 6 7p15.3 G−174C, G−597A or G−598A rs1800795*, rs1800797* 
IL16 Interleukin 16 15q25.1 3′-UTR, Ex22+871A>G, 3′-UTR, Ex22+889G>T rs859*, rs11325* 
VCAM1 Vascular cell adhesion molecule 1 1p32-p31 T−1591C, K644K (Ex9+149G>A) rs1041163*, rs3176879* 
FCGR2A Receptor for Fc fragment of IgG, low-affinity IIa (CD32) 1q21-q23 H165R (Ex4−120A>G) rs1801274* 
SELE Selectin E 1q22-q25 S149R (Ex4+24A>C) rs5361* 
IL10 Interleukin 10 1q31-q32 C−819T, C−592A, A−1082G, T−3575A rs1800871*, rs1800872*, rs1800896*, rs1800890* 
STAT1 Signal transducer and activator of transcription 1 2q32.2-q32.3 IVS21−8C>T (splice) rs2066804* 
CTLA4 Cytotoxic T lymphocyte-associated 4 2q33 T17A (Ex1−61A>G) rs231775* 
CCR2 Chemokine, CC motif, receptor 2 3p21 V64I (Ex2+241G>A) rs1799864* 
CCR5 Chemokine, CC motif, receptor 5 3p21 Δ32 rs333* 
CX3CR1 Chemokine, CXC motif 3p21 V249I (Ex2+754G>A) rs3732379* 
IL12A Interleukin 12, α 3q25.33 G8685A rs568408* 
IL2 Interleukin 2 4q26-q27 Ex2T>G rs2069762* 
IL15 Interleukin 15 4q31.21 3′-UTR, Ex9−66T>C rs10833* 
IL7R Interleukin 7 receptor (CD127) 5p13 V138I (Ex4+33G>A) rs1494555* 
IL13 Interleukin 13 5q23.3 Q144R (Ex4+98A>G), C−1069T rs20541*, rs1800925* 
IL4 Interleukin 4 5q31.1 C−524T, T−1098G, 5′-UTR, Ex1-168C>T rs2243250*, rs2243248*, rs2070874* 
IL5 Interleukin 5 5q31.1 C−745T, C−1551T, Ex4+78C>A rs2069812*, rs2069807*, rs2069818† 
IL12B Interleukin 12B 5q33.3 3′-UTR, Ex8+159A>C rs3212227* 
IFNGR1 Interferon γ receptor 1 6q23-q24 IVS6−4G>A rs3799488* 
TLR4 Toll-like receptor 4 9q32-q33 D299G (Ex4+636A>G) rs4986790* 
IL15RA Interleukin 15 receptor α 10p15.1 3′-UTR, Ex8−361A>C rs2296135* 
CXCL12 Chemokine, CXC motif, ligand 12 (SDF-1) 10q11.1 3′-UTR, Ex4+535C>T rs1801157* 
IL10RA Interleukin 10 receptor α 11q23.3 3′-UTR, Ex7−109G>A rs9610* 
IL4R Interleukin 4 receptor 16p12.1-p11.2 C−29429T rs2107356* 
JAK3 Janus kinase 3 19p13.1 3′-UTR, Ex23+291A>G, IVS2+42G>A, IVS2+40G>A rs3008*, rs3212713†, rs3212712† 
ICAM1 Intercellular adhesion molecule 1 19p13.3-p13.2 K56M (Ex2+100A>T) rs5491* 
IFNG Interferon γ 21q14 IVS3+284G>A, C−1615T rs1861494*, rs2069705* 
IFNGR2 Interferon γ receptor 2 21q22.1-q22.2 Q64R (Ex2−16A>G) rs9808753* 
*

Main gene-disease effects of 57 SNPs published in Wang et al.23 

†

Additional SNPs not published previously in Wang et al.23 

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