Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk

Table 8

Gene polymorphisms associated with CRC.

Gene	Reference SNP (rs)	Effect on CRC	Reference
Matrix metalloproteinases-9 (MMP 9)	rs34016235	A promoter polymorphism due to a C to T substitution results in the loss of the binding site of a nuclear protein to this region of the MMP 9 gene promoter. The polymorphism is associated with lymph node metastasis of CRC.	[78]
COX-2	rs20417	The C allele has lower promoter activity than the G allele, and GG genotype in smokers is associated with a significant increase in the risk of CRC compared to nonsmokers.	[79]
Vitamin D receptor	rs1544410	Polymorphism of the vitamin D receptor gene to be associated with an increased risk of colon cancer.	[80]
Bone morphogenetic protein 4 (BMP 4)	rs4444235	The rs4444235 increases risk of CRC development through its cis-acting regulatory influence on BMP4 expression.	[81]
Phospholipase A2	rs9657930	Polymorphisms in the phospholipase A2 gene is associated with the risk of the rectal cancer.	[82]
Colorectal adenoma and carcinoma 1	rs4779584	The rs4779584 polymorphism is associated with increased risk of CRC among Caucasian not Asian populations.	[83]
Eukaryotic translation initiation factor 3	rs16892766	The rs16892766 polymorphism is associated with increased risk of CRC but not adenoma among Caucasian.	[84]
Cadherin-1	rs9929218	The minor allele of rs9929218 has reduced E-cadherin expression and resulted in worsening the survival of CRC patients.	[85]
FAS	rs2234767	The rs2234767 contributes to an increased risk of CRC by altering recruitment of SP1/STAT1 complex to the FAS promoter for transcriptional activation.	[86]
Maternally expressed gene 3	rs7158663	The rs7158663 changes the folding structures of maternally expressed gene 3; therefore, it contributes to genetic susceptibility of CRC.	[87]
Fc-g receptor gene	rs1801274	The rs1801274 changes the amino acid from histidine (H) to arginine. CRC patients with Fc-g receptor H/H genotype have better survival.	[88]
SPSB2 gene	rs11064437	The rs11064437 contributes to an increased risk of CRC by disrupting the splicing and introduction of a transcriptional isoform with a shortened untranslated region of SPSB2 gene.	[89]
TPP1	rs149418249	Prevents TPP1-TIN2 interaction, shortening the telomere length, and as a consequence, enhances cell proliferation	[90]
SLC22A5	rs27437	The G allele decreases the expression of SLC22A5 via influencing the TF-binding upstream of the gene, leading to higher CRC risk.	[91]
KBTBD11	rs11777210	C allele allows binding of MYC, a potent oncogene, preventing the expression of KBTBD11, a potent tumor suppressor.	[92]
miR-17-92 cluster	rs9588884	The G allele lowers the CRC risk by decreasing transcriptional activity and consequently lowering levels of miR-20a.	[93]