Nucleotide excision repair pathway gene polymorphisms are associated with risk and prognosis of colorectal cancer

doi:10.3748/wjg.v26.i3.307

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World Journal of Gastroenterology

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World J Gastroenterol. Jan 21, 2020; 26(3): 307-323
Published online Jan 21, 2020. doi: 10.3748/wjg.v26.i3.307

Table 2 Association between nucleotide excision repair polymorphisms and colorectal cancer risk in the validation stage¹, n (%)

SNP genotype	NCBI Ref	CRC	CON	P value	OR (95%CI)
DDB2
rs2029298		n = 849	n = 849
GG	32 (37.2)	393 (46.3)	385 (45.3)		1 (Ref)
GA	38 (44.2)	359 (42.3)	368 (43.3)	0.650	0.95 (0.78-1.17)
AA	16 (18.6)	97 (11.4)	96 (11.3)	0.919	0.98 (0.72-1.35)
GA + AA vs GG				0.677	0.96 (0.79-1.16)
AA vs GA + GG				0.980	1.00 (0.74-1.36)
P_HWE	0.584		0.570
ERCC1
rs11615		n = 850	n = 847
CC	54 (62.8)	518 (60.9)	494 (58.3)		1 (Ref)
CT	24 (27.9)	293 (34.5)	305 (36.0)	0.355	0.91 (0.74-1.11)
TT	8 (9.3)	39 (4.6)	48 (5.7)	0.248	0.77 (0.50-1.20)
CT + TT vs CC				0.244	0.89 (0.73-1.08)
TT vs CT + CC				0.321	0.80 (0.52-1.24)
P_HWE	0.200		0.919
rs735482		n = 836	n = 838
CC	18 (20.9)	169 (20.2)	168 (20.0)		1 (Ref)
CA	40 (46.5)	405 (48.4)	403 (48.1)	0.966	1.00 (0.77-1.28)
AA	28 (32.6)	262 (31.3)	267 (31.9)	0.856	0.98 (0.74-1.28)
CA + AA vs CC				0.920	0.99 (0.78-1.26)
AA vs CA + CC				0.812	0.98 (0.79-1.20)
P_HWE	0.752		0.477
ERCC2
rs1052555		n = 852	n = 851
CC	NA	767 (90.0)	759 (89.2)		1 (Ref)
CT	NA	84 (9.9)	91 (10.7)	0.605	0.92 (0.67-1.26)
TT	NA	1 (0.1)	1 (0.1)	0.970	0.95 (0.06-15.21)
CT + TT vs CC				0.602	0.92 (0.67-1.26)
TT vs CT + CC				0.971	0.95 (0.06-15.22)
P_HWE	NA		0.307
rs50871		n = 838	n = 845
TT	40 (46.5)	429 (51.2)	451 (53.4)		1 (Ref)
TG	36 (41.9)	337 (40.2)	358 (42.4)	0.922	0.99 (0.81-1.21)
GG	10 (11.6)	72 (8.6)	36 (4.3)	0.001	2.09 (1.37-3.19)
TG + GG vs TT				0.374	1.09 (0.90-1.32)
GG vs TG + TT				< 0.001	2.08 (1.38-3.15)
P_HWE	1.000		0.001
ERCC5
rs1047768		n = 839	n = 845
CC	8 (9.3)	75 (8.9)	71 (8.4)		1 (Ref)
CT	30 (34.9)	348 (41.5)	351 (41.5)	0.735	0.94 (0.66-1.35)
TT	48 (55.8)	416 (49.6)	423 (50.1)	0.708	0.94 (0.66-1.33)
CT + TT vs CC				0.717	0.94 (0.67-1.32)
TT vs CT + CC				0.822	0.98 (0.81-1.19)
P_HWE	0.480		0.880
rs2094258		n = 843	n = 841
GG	38 (44.2)	307 (36.4)	326 (38.8)		1 (Ref)
GA	42 (48.8)	409 (48.5)	392 (46.6)	0.389	1.10 (0.89-1.35)
AA	6 (7.0)	127 (15.1)	123 (14.6)	0.615	1.08 (0.80-1.45)
GA + AA vs GG				0.370	1.10 (0.90-1.33)
AA vs GA + GG				0.837	1.03 (0.79-1.35)
P_HWE	0.403		0.770
rs2228959		n = 841	n = 851
CC	74 (86.0)	754 (89.7)	782 (91.9)		1 (Ref)
CA	12 (14.0)	83 (9.9)	62 (7.3)	0.051	1.41 (1.00-1.99)
AA	0 (0.0)	4 (0.5)	7 (0.8)	0.408	0.59 (0.17-2.04)
CA + AA vs CC				0.095	1.33 (0.95-1.85)
AA vs CA + CC				0.383	0.58 (0.17-1.98)
P_HWE	1.000		< 0.001
rs2296147		n = 844	n = 847
TT	52 (60.5)	508 (60.2)	517 (61.0)		1 (Ref)
TC	32 (37.2)	294 (34.8)	289 (34.1)	0.684	1.04 (0.85-1.28)
CC	2 (2.3)	42 (5.0)	41 (4.8)	0.904	1.03 (0.66-1.61)
TC + CC vs TT				0.679	1.04 (0.86-1.27)
CC vs TC + TT				0.952	1.01 (0.65-1.58)
P_HWE	0.439		0.940
rs873601		n = 842	n = 837
GG	16 (18.6)	230 (27.3)	223 (26.6)		1 (Ref)
GA	48 (55.8)	435 (51.7)	413 (49.3)	0.807	1.03 (0.82-1.29)
AA	22 (25.6)	177 (21.0)	201 (24.0)	0.310	0.87 (0.66-1.14)
GA + AA vs GG				0.849	0.98 (0.79-1.22)
AA vs GA + GG				0.155	0.85 (0.67-1.07)
P_HWE	0.439		0.719
XPA
rs10817938		n = 823	n = 822
TT	58 (67.4)	511 (62.1)	547 (66.5)		1(Ref)
TC	24 (27.9)	259 (31.5)	241 (29.3)	0.231	1.14 (0.92-1.41)
CC	4 (4.7)	53 (6.4)	34 (4.1)	0.021	1.70 (1.08-2.66)
TC + CC vs TT				0.071	1.21 (0.98-1.48)
CC vs TC + TT				0.033	1.62 (1.04-2.52)
P_HWE	0.655		0.257
rs3176629		n = 847	n = 852
CC	68 (79.1)	689 (81.3)	706 (82.9)		1 (Ref)
CT	18 (20.9)	151 (17.8)	133 (15.6)	0.240	1.17 (0.90-1.51)
TT	0 (0.0)	7 (0.8)	13 (1.5)	0.225	0.56 (0.22-1.42)
CT + TT vs CC				0.399	1.11 (0.87-1.43)
TT vs CT + CC				0.205	0.55 (0.22-1.39)
P_HWE	0.752		0.024
XPC
rs2607775		n = 840	n = 850
CC	76 (84.5)	755 (89.9)	792 (93.2)		1(Ref)
CG	12 (13.3)	80 (9.5)	56 (6.6)	0.027	1.49 (1.05-2.13)
GG	2 (2.2)	5 (0.6)	2 (0.2)	0.219	2.81 (0.54-14.56)
CG + GG vs CC				0.016	1.54 (1.09-2.18)
GG vs CG + CC				0.238	2.69 (0.52-13.95)
P_HWE	0.251		0.343

¹P was adjusted by gender and age. Statistically significant associations are in bold (P < 0.05). SNP: Single nucleotide polymorphism; NCBI Ref: Reference frequency of the SNPs in healthy controls (Beijing Han, China, NCBI database); CRC: Colorectal cancer; CON: Control; OR: Odds ratio; CI: Confidence interval; P_HWE: Hardy-Weinberg Equilibrium in control group; NA: Not available.

Citation: Li YK, Xu Q, Sun LP, Gong YH, Jing JJ, Xing CZ, Yuan Y. Nucleotide excision repair pathway gene polymorphisms are associated with risk and prognosis of colorectal cancer. World J Gastroenterol 2020; 26(3): 307-323
URL: https://www.wjgnet.com/1007-9327/full/v26/i3/307.htm
DOI: https://dx.doi.org/10.3748/wjg.v26.i3.307