Genetic variations in colorectal cancer risk and clinical outcome

Table 2 Common genetic variants associated with colorectal cancer clinical outcome

Genes/loci	SNP1	Patient population	Clinical outcome	HR (95%CI)	P value	Ref.
MTHFR	glu429ala	Mixed colorectal cancer (CRC) patients	OS	1.71 (1.18-2.49)	0.005	[64]
ESR2	rs2987983	Postmenopausal women with CRC	OS	0.77 (0.60-0.99)	0.002	[65]
SCN1A	rs3812718	Stage II/III patients with adjuvant 5-fuorouracil (5-FU) based chemotherapy	TTR	2.26 (0.89-5.70)	0.039	[66]
SMAD7	rs4939827	Mixed CRC patients	OS	1.16 (1.06-1.27)	0.002	[55]
mir608	rs4919510	Stage III patients with 5-FU based chemotherapy	RE	1.65 (1.13-2.41)	0.01	[67]
	rs4919510		OS	1.96 (1.19-3.21)	0.008
15q13.3	rs10318	Stage II patients with 5-FU based adjuvant chemotherapy	ER	2.98 (1.27-6.99)	0.012	[56]
11q23.1	rs10749971	Stage III patients with 5-FU based adjuvant chemotherapy	ER	0.46 (0.27-0.80)	0.006
20p12.3	rs961253		ER	0.46 (0.22-0.96)	0.038
			OS	0.24 (0.09-0.68)	0.007
20p12.3	rs355527		ER	0.48 (0.23-0.99)	0.048
			OS	0.29 (0.10-0.81)	0.019
18q21.1	rs4464148		OS	4.34 (1.46-12.89)	0.008
8q24.21	rs6983267		OS	4.20 (1.13-15.64)	0.032
	rs10505477		OS	4.20 (1.13-15.64)	0.032
15q13	rs4779584	Chinese CRC patients	OS	0.33 (0.15-0.72)	0.007	[57]
10p14	rs10795668		RE	0.55 (0.30-1.00)	0.05
pre-mi-423	rs6505162	Mixed CRC patients	OS	2.12 (1.34-3.34)	0.001	[68]
	rs6505162		RFS	1.59 (1.08-2.36)	0.019
pre-mi-608	rs4919510		RFS	0.61 (0.41-0.92)	0.017
CLOCK	rs3749474	Resected CRC patients	OS	0.55 (0.37-0.81)	0.003	[69]
	rs1801260		OS	0.31 (0.11-0.88)	0.03
SCD	rs7849	Stage II patients with 5-FU based adjuvant chemotherapy	RE	2.89 (1.54-5.41)	0.001	[70]
VEGF	-2578	Stage II	TTR	2.01 (1.13-3.56)	0.02	[71]
	-460		TTR	0.50 (0.29-0.89)	0.02
KDR	rs10013228	Resected CRC patients	RE	0.53 (0.30-0.95)	0.032	[72]
CD44	rs8193	Stage III and high risk stage II patients with 5-FU based chemotherapy	TTR	0.51 (0.35-0.93)	0.022	[73]
ALCAM	rs1157		TTR	0.56 (0.33-0.94)	0.024
LGR5	rs17109924		TTR	0.33 (0.12-0.90)	0.023

¹Only the most significant single nucleotide polymorphism (SNP) was shown. OS: Overall survival; RE: Recurrence; RFS: Recurrence free survival; TTR: Time to recurrence.