Table 1.
Immune-related single nucleotide polymorphism associated with colorectal cancer
|
Ref.
|
Size
|
Analysis
|
Gene
|
SNP
|
Function
|
Ethnicity
|
Comment
|
| Montazeri et al[89], 2020 | 6149 CRC 7337 controls | Meta-analysis | COLCA1/2 1 | rs3802842 (11q23.1) | Immune infiltration of LP | Europeans | Confirmed by Lu et al[49], 20191 |
| TGFB1, SMAD7, SMAD7 | rs1800469, rs12953717, rs4464148 | TGFB signaling inhibitor | |||||
| Law et al[50], 2019 | 34627 CRC 71379 controls | Meta-analysis | HLA-C | rs3131043 (6p21.33) | Adaptive immunity | Europeans | |
| HLA-DRB1/DQA1 | rs9271770 (6q21.33) | Adaptive immunity | |||||
| COLCA1/2 | rs3087967 (11q23.1) | Immune LP leukocytes | |||||
| FUT2 | rs12979278 (19q13.33) | Gut barrier | |||||
| Lu et al[49], 2019 | GWAS | NOD2 | rs2066847 | Innate immunity | East Asians | Confirmed by Montazeri et al[89], 20202 | |
| GATA3 | rs10795668 (10p14) | T cell transcription factor | |||||
| SMAD7 | rs7229639 | TGFB signaling inhibitor | |||||
| SMAD7 | rs4939827 | TGFB signaling inhibitor | |||||
| COLCA1/2 2 | rs3802842 (11q23.1) | Immune infiltration of LP | |||||
| Sanabria-Salas et al[33], 2017 | 391 CRC | GWAS | IL1B | CGTC haplotype (2q14) | Inflammation | Columbian Africans | Association with AA admixture |
| Hung et al[85], 2015 | 15414 CRC 17688 controls | GWAS | SH2B3 | rs3184504 (12q24) | Cytokine signaling | Europeans | Confirmed by Schumacher et al[135], 2015 |
| Schumacher et al[135], 2015 | 18299 CRC, 19656 controls (Europeans), 2098 cases, 6172 controls (Asian 1), 2627 cases, 3797 controls (Asian 2) | Meta-analysis | SH2B3 3 | rs3184504 (12q24.12) | Cytokine signaling | Europeans/Asians | Confirmed by Hung et al[85], 20153 |
| NOS1 | rs73208120 (12q24.22) | ROS production | |||||
| Wang et al[47], 2013 | 2535 CRC, 3915 controls (discovery), 2153 CRC, 2630 controls (validation) | GWAS | PPARG | rs9858822 | Monocyte activation | Multi-ethnic | High frequency in AA |
| Tsilidis et al[136], 2009 | CLUE II cohort, 208 CRC, 381 controls | GWAS | IL10 | rs1800896, rs1800890, rs3024496, rs3024498 | Increased IL-10 | ND |
1
Confirmed by Lu et al[49].
2
Confirmed by Montazeri et al[89].
3
Confirmed by Hung et al[85].
AA: African-American; CRC: Colorectal cancer; GWAS: Genome-wide association studies; IL: Interleukin; LP: Lamina propria; ROS: Reactive oxygen species; SNP: Single nucleotide polymorphism; TGF: Transforming growth factor; ND: Not determined; HLA: Human leukocyte antigen; FUT2: Fucosyltransferase 2; NOD2: Nucleotide binding oligomerization domain containing protein 2; GATA3: GATA binding protein 3; SH2B3: SH2B adapter protein 3; NOS1: Nitric oxide synthase 1; PPARG: Peroxisome proliferator-activated receptor gamma.