Review
Copyright ©The Author(s) 2022.
World J Gastroenterol. Jul 7, 2022; 28(25): 2782-2801
Published online Jul 7, 2022. doi: 10.3748/wjg.v28.i25.2782
Table 1 Immune-related single nucleotide polymorphism associated with colorectal cancer
Ref.
Size
Analysis
Gene
SNP
Function
Ethnicity
Comment
Montazeri et al[89], 20206149 CRC 7337 controlsMeta-analysisCOLCA1/21rs3802842 (11q23.1)Immune infiltration of LPEuropeansConfirmed by Lu et al[49], 20191
TGFB1, SMAD7,SMAD7rs1800469, rs12953717, rs4464148TGFB signaling inhibitor
Law et al[50], 201934627 CRC 71379 controlsMeta-analysisHLA-Crs3131043 (6p21.33) Adaptive immunityEuropeans
HLA-DRB1/DQA1rs9271770 (6q21.33)Adaptive immunity
COLCA1/2rs3087967 (11q23.1)Immune LP leukocytes
FUT2rs12979278 (19q13.33)Gut barrier
Lu et al[49], 2019GWASNOD2rs2066847Innate immunityEast AsiansConfirmed by Montazeri et al[89], 20202
GATA3rs10795668 (10p14)T cell transcription factor
SMAD7rs7229639TGFB signaling inhibitor
SMAD7rs4939827TGFB signaling inhibitor
COLCA1/22rs3802842 (11q23.1)Immune infiltration of LP
Sanabria-Salas et al[33], 2017391 CRCGWASIL1BCGTC haplotype (2q14)InflammationColumbian AfricansAssociation with AA admixture
Hung et al[85], 201515414 CRC 17688 controlsGWASSH2B3rs3184504 (12q24)Cytokine signalingEuropeansConfirmed by Schumacher et al[135], 2015
Schumacher et al[135], 201518299 CRC, 19656 controls (Europeans), 2098 cases, 6172 controls (Asian 1), 2627 cases, 3797 controls (Asian 2)Meta-analysisSH2B33rs3184504 (12q24.12)Cytokine signalingEuropeans/AsiansConfirmed by Hung et al[85], 20153
NOS1rs73208120 (12q24.22)ROS production
Wang et al[47], 20132535 CRC, 3915 controls (discovery), 2153 CRC, 2630 controls (validation)GWASPPARGrs9858822Monocyte activationMulti-ethnicHigh frequency in AA
Tsilidis et al[136], 2009CLUE II cohort, 208 CRC, 381 controlsGWASIL10rs1800896, rs1800890, rs3024496, rs3024498Increased IL-10ND