Association of insertion-deletions polymorphisms with colorectal cancer risk and clinical features

Table 1 Potential biological effects of insertion-deletions polymorphism selected in this study

Gene	dbSNP	Localization1	INDEL	Region	Potential biological effect[84]				Potential impact on carcinogenesis
			lenght		mRNA splicing	mRNA stability	Gene expression	Protein function
ACE	rs4646994	17:63488539	289	Intron	X	X		X	Angiogenesis, proliferation, progression and metastases[85]
CASP8	rs3834129	2:201232809	6	Promoter			X		Apoptosis[86-88]
SGSM3	rs56228771	22:40410092	4	3'-UTR		X	X		Proliferation and apoptosis [83,89-91]
CYP2E1	-	-	96	5'-Flanking			X		Metabolism of endo- and exogenous[92-97]
CYP19A1	rs11575899	15:51227749	3	Intron	X	X		X	Metabolism of endo- and exogenous[92-97]
HLAG	rs371194629	6:29830804	14	3'-UTR		X	X		Immune surveillance[98-102]
IL1A	rs3783553	2:112774138	4	3'-UTR		X	X		Induce chronic inflammation and proliferation[103,104]
IL4	rs79071878	5:132680584	70	Intron	X	X		X	Immune surveillance and proliferation[40,39,43,105,106]
MDM2	rs3730485	12:68807065	40	Promoter			X		Proliferation and apoptosis[107,108]
NFKB1	rs28362491	4:102500998	4	Promoter			X		Differentiation, proliferation and apoptosis [109,110]
TP53	rs17878362	17:7676372	16	Intron	X	X		X	Proliferation, apoptosis, repair, differentiation[111-114]
TP53	rs17880560	17:7668169	6	3'-Flanking		X	X		Proliferation, apoptosis, repair, differentiation[111-114]
TYMS	rs151264360	18:673444	6	3'-UTR		X	X		Differentiation, replication and repair[50,105]
UCP2	-	-	45	3'-UTR		X	X		Tumor aggressiveness and metastasis[56]
UGT1A1	rs8175347	2:233760235	2	3'-UTR		X	X		Metabolism of endo- and exogenous[92-97]
XRCC1	rs3213239	19:43576907	4	5'- Flanking			X		Repair[115-117]

¹According to the single nucleotide polymorphism database (dbSNP); UTR: Untranslated region; INDEL: Insertion-deletions.